Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Pankreopriver Diabetes mellitus

Bei dem genetisch bedingten pankreopriver Diabetes mellitus handelt es sich um eine Erkrankung, die durch eine Entwicklungsstörung des Pankreas entstanden ist.

Gliederung

Diabetes mellitus
Autoimmundiabetes
Diabetische Nephropathie
Diabetische Retinopathie
Erbliche Diabetesneigung
Gestationsdiabetes
Insulinresistenz
MODY Diabetes
Mitochondrialer Diabetes mellitus
Neonataler Diabetes mellitus
Nichtinsulinabhängiger Diabetes mellitus 1
Pankreopriver Diabetes mellitus
Mitchell-Riley-Syndrom
RFX6
Pankreasaganesie mit Herzfehlern
GATA6
Pankreasagenesie 1
PDX1
Pankreasagenesie 2
PTF1A
Schwere Fettsucht mit Typ 2 Diabetes

Referenzen:

1.

Tosi R et. al. (1978) Immunological dissection of human Ia molecules.

[^]
2.

Duquesnoy RJ et. al. (1979) Identification of an HLA-DR-associated system of B-cell alloantigens.

[^]
3.

Odievre M et. al. (1975) [Fructose 1,6-diphosphatase deficiency in 2 sisters].

[^]
4.

Paulus JM et. al. (1978) Platelet formation in Mediterranean macrothrombocytosis.

[^]
5.

None (1975) Mediterranean macrothrombocytopenia.

[^]
6.

Shulman RS et. al. (1976) Beta-sitosterolemia and xanthomatosis.

[^]
7.

van den Ouweland JM et. al. (1992) Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.

[^]
8.

Ballinger SW et. al. (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion.

[^]
9.

Reardon W et. al. (1992) Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.

[^]
10.

Moses SW et. al. (1991) Fructose-1,6-diphosphatase deficiency in Israel.

[^]
11.

Alcolado JC et. al. (1991) Importance of maternal history of non-insulin dependent diabetic patients.

[^]
12.

Hatanaka I et. al. (1990) Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.

[^]
13.

Todd JA et. al. (1990) The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese.

[^]
14.

Bührdel P et. al. (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.

[^]
15.

Helmuth R et. al. (1990) HLA-DQ alpha allele and genotype frequencies in various human populations, determined by using enzymatic amplification and oligonucleotide probes.

[^]
16.

Nguyen LB et. al. (1990) A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis.

[^]
17.

Briata P et. al. (1989) Alternative splicing of HLA-DQB transcripts and secretion of HLA-DQ beta-chain proteins: allelic polymorphism in splicing and polyadenylylation sites.

[^]
18.

Del Pozzo G et. al. (1989) Mummy DNA fragment identified.

[^]
19.

Kwok WW et. al. (1989) Mutational analysis of the HLA-DQ3.2 insulin-dependent diabetes mellitus susceptibility gene.

[^]
20.

Gyllensten UB et. al. (1988) Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

[^]
21.

Todd JA et. al. () HLA-DQ beta gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus.

[^]
22.

Beaty TH et. al. (1986) Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.

[^]
23.

Okada K et. al. (1985) Gene organization of DC and DX subregions of the human major histocompatibility complex.

[^]
24.

Moriuchi J et. al. (1985) Nucleotide sequence of an HLA-DQ alpha chain derived from a DRw9 cell line: genetic and evolutionary implications.

[^]
25.

Salen G et. al. (1985) Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis.

[^]
26.

None () Molecular cloning of Ancient Egyptian mummy DNA.

[^]
27.

Skrede B et. al. (1985) The presence of 5 alpha-sitostanol in the serum of a patient with phytosterolemia, and its biosynthesis from plant steroids in rats with bile fistula.

[^]
28.

Baker L et. al. (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

[^]
29.

Sia CL et. al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.

[^]
30.

Melancon SB et. al. (1972) Detection of fructose-6,-diphosphatase deficiency with use of white blood cells.

[^]
31.

Baerlocher K et. al. (1971) Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.

[^]
32.

Pagliara AS et. al. (1972) Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.

[^]
33.

Greene HL et. al. (1972) "Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.

[^]
34.

Bhattacharyya AK et. al. (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters.

[^]
35.

Ducrou W et. al. (1969) Stomatocytes, haemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome?

[^]
36.

Kwiterovich PO et. al. (1981) Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia.

[^]
37.

Nadler LM et. al. (1981) Monoclonal antibody identifies a new Ia-like (p29,34) polymorphic system linked to the HLA-D/DR region.

[^]
38.

None (1981) Role of MHC gene products in immune regulation.

[^]
39.

Corte G et. al. (1981) Human Ia molecules carrying DC1 determinants differ in both alpha- and beta-subunits from Ia molecules carrying DR determinants.

[^]
40.

Sorrentino R et. al. (1983) Microfingerprinting analysis of human Ia molecules favours a three loci model.

[^]
41.

Cohen D et. al. (1984) Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes and multiple sclerosis.

[^]
42.

Brahimi S et. al. (1984) Platelet count and mean platelet volume in an Algerian population indicating a low prevalence of Mediterranean macrothrombocytopenia.

[^]
43.

Schenning L et. al. (1984) Both alpha and beta chains of HLA-DC class II histocompatibility antigens display extensive polymorphism in their amino-terminal domains.

[^]
44.

Bono MR et. al. (1982) Direct evidence of homology between human DC-1 antigen and murine I-A molecules.

[^]
45.

None (1980) Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis.

[^]
46.

Hsu SH et. al. (1981) Genetic control of major histocompatibility complex-linked immune responses to synthetic polypeptides in man.

[^]
47.

Auffray C et. al. (1982) cDNA clone for the heavy chain of the human B cell alloantigen DC1: strong sequence homology to the HLA-DR heavy chain.

[^]
48.

Tanigaki N et. al. (1980) Molecular identification of human Ia antigens coded for by a gene locus closely linked to HLA-DR locus.

[^]
49.

Accolla RS et. al. (1981) Distinct forms of both alpha and beta subunits are present in the human Ia molecular pool.

[^]
50.

Shackelford DA et. al. (1981) Human B-cell alloantigens DC1, MT1, and LB12 are identical to each other but distinct from the HLA-DR antigen.

[^]
51.

Wang C et. al. (1981) A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia.

[^]
52.

el-Maghrabi MR et. al. (1995) Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.

[^]
53.

Sue CM et. al. (1993) Mitochondrial gene mutations and diabetes mellitus.

[^]
54.

Kikawa Y et. al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

[^]
55.

Besley GT et. al. (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.

[^]
56.

Ballinger SW et. al. (1994) Mitochondrial diabetes revisited.

[^]
57.

Meyer CG et. al. (1994) HLA-D alleles associated with generalized disease, localized disease, and putative immunity in Onchocerca volvulus infection.

[^]
58.

Schulz JB et. al. (1993) Mitochondrial gene mutations and diabetes mellitus.

[^]
59.

Rothschild CB et. al. (1995) Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.

[^]
60.

Suzuki Y et. al. (1996) Evidence for genetic regulation of susceptibility to toxoplasmic encephalitis in AIDS patients.

[^]
61.

Nabozny GH et. al. (1996) HLA-DQ8 transgenic mice are highly susceptible to collagen-induced arthritis: a novel model for human polyarthritis.

[^]
62.

Velho G et. al. (1996) Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation.

[^]
63.

't Hart LM et. al. (1996) Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging.

[^]
64.

Salen G et. al. (1996) Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome.

[^]
65.

Vialettes BH et. al. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.

[^]
66.

Kikawa Y et. al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

[^]
67.

Bradley DS et. al. (1997) HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice. Implications in human rheumatoid arthritis.

[^]
68.

Kameoka K et. al. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes.

[^]
69.

Tillmann H et. al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.

[^]
70.

Patel SB et. al. (1998) Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

[^]
71.

Martin Negrier ML et. al. (1998) Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness.

[^]
72.

Ferber KM et. al. (1999) Predictive value of human leukocyte antigen class II typing for the development of islet autoantibodies and insulin-dependent diabetes postpartum in women with gestational diabetes.

[^]
73.

Chinnery PF et. al. (1999) Nonrandom tissue distribution of mutant mtDNA.

[^]
74.

Wen L et. al. (2000) In vivo evidence for the contribution of human histocompatibility leukocyte antigen (HLA)-DQ molecules to the development of diabetes.

[^]
75.

Lambert NC et. al. (2000) Cutting edge: persistent fetal microchimerism in T lymphocytes is associated with HLA-DQA1*0501: implications in autoimmunity.

[^]
76.

Berge KE et. al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

[^]
77.

Lee MH et. al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

[^]
78.

Savoia A et. al. (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

[^]
79.

Guillausseau PJ et. al. (2001) Maternally inherited diabetes and deafness: a multicenter study.

[^]
80.

None (2001) Mitochondrial DNA mutations and diabetes: another step toward individualized medicine.

[^]
81.

Lu K et. al. (2001) High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.

[^]
82.

Lee MH et. al. (2001) Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities.

[^]
83.

Lu K et. al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

[^]
84.

Cucca F et. al. (2001) A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.

[^]
85.

Repa JJ et. al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

[^]
86.

Lu K et. al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

[^]
87.

Matsuura T et. al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

[^]
88.

Yu L et. al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

[^]
89.

Sehayek E et. al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.

[^]
90.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

[^]
91.

None (2003) Images in clinical medicine. Phytosterolemia and xanthomatosis.

[^]
92.

Kim CY et. al. (2004) Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease.

[^]
93.

Yang C et. al. (2004) Disruption of cholesterol homeostasis by plant sterols.

[^]
94.

Solcà C et. al. (2005) Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

[^]
95.

Rees DC et. al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

[^]
96.

Stewart GW et. al. (2006) Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia.

[^]
97.

Buch S et. al. (2007) A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

[^]
98.

Mannucci L et. al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

[^]
99.

Stewart GW et. al. (2008) Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia.

[^]
100.

Hovhannisyan Z et. al. (2008) The role of HLA-DQ8 beta57 polymorphism in the anti-gluten T-cell response in coeliac disease.

[^]
101.

Rios J et. al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

[^]
102.

Stanescu HC et. al. (2011) Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

[^]
103.

Ogun O et. al. (2012) Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy.

[^]
104.

Chong JX et. al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

[^]
105.

Li B et. al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.

[^]
106.

Martínez-Frías ML et. al. (1992) Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.

[^]
107.

Annerén G et. al. (1998) Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia.

[^]
108.

Gentile M et. al. (1999) Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome.

[^]
109.

Mitchell J et. al. (2004) Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

[^]
110.

Galán-Gómez E et. al. () Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome.

[^]
111.

Teyra J et. al. (2008) SCOWLP classification: structural comparison and analysis of protein binding regions.

[^]
112.

Chappell L et. al. (2008) A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

[^]
113.

Martinovici D et. al. () Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.

[^]
114.

Smith SB et. al. (2010) Rfx6 directs islet formation and insulin production in mice and humans.

[^]
115.

Schwitzgebel VM et. al. (2003) Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

[^]
116.

Wright NM et. al. (1993) Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.

[^]
117.

Stoffers DA et. al. (1997) Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.

[^]
118.

Yorifuji T et. al. (1994) Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

[^]
119.

Krapp A et. al. (1996) The p48 DNA-binding subunit of transcription factor PTF1 is a new exocrine pancreas-specific basic helix-loop-helix protein.

[^]
120.

Suzuki E et. al. (1996) The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals.

[^]
121.

Morrisey EE et. al. (1998) GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo.

[^]
122.

Krapp A et. al. (1998) The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas.

[^]
123.

Hoveyda N et. al. (1999) Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.

[^]
124.

Adell T et. al. (2000) Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells.

[^]
125.

Laitinen MP et. al. (2000) Transcription factors GATA-4 and GATA-6 and a GATA family cofactor, FOG-2, are expressed in human ovary and sex cord-derived ovarian tumors.

[^]
126.

Rose SD et. al. (2001) The role of PTF1-P48 in pancreatic acinar gene expression.

[^]
127.

Kawaguchi Y et. al. (2002) The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors.

[^]
128.

Ketola I et. al. (2003) Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis.

[^]
129.

Sellick GS et. al. (2003) A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13.

[^]
130.

Sellick GS et. al. (2004) Mutations in PTF1A cause pancreatic and cerebellar agenesis.

[^]
131.

Ho CK et. al. (2005) Increased transcription and increased messenger ribonucleic acid (mRNA) stability contribute to increased GATA6 mRNA abundance in polycystic ovary syndrome theca cells.

[^]
132.

Lepore JJ et. al. (2006) GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis.

[^]
133.

Xin M et. al. (2006) A threshold of GATA4 and GATA6 expression is required for cardiovascular development.

[^]
134.

Kamnasaran D et. al. (2007) GATA6 is an astrocytoma tumor suppressor gene identified by gene trapping of mouse glioma model.

[^]
135.

Masui T et. al. (2007) Early pancreatic development requires the vertebrate Suppressor of Hairless (RBPJ) in the PTF1 bHLH complex.

[^]
136.

Kodo K et. al. (2009) GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.

[^]
137.

Maitra M et. al. (2010) Identification of GATA6 sequence variants in patients with congenital heart defects.

[^]
138.

Lin X et. al. (2010) A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

[^]
139.

Al-Shammari M et. al. (2011) A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.

[^]
140.

Yorifuji T et. al. (2012) Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.

[^]
141.

Weedon MN et. al. (2014) Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

[^]
142.

Yu L et. al. (2014) Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

[^]
143.

Rosas M et. al. (2014) The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.

[^]
144.

Lemons JA et. al. (1979) Congenital absence of the pancreas and intrauterine growth retardation.

[^]
145.

Méhes K et. al. (1976) Agenesis of pancreas and gall-bladder in an infant of incest.

[^]
146.

Winter WE et. al. (1986) Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency.

[^]
147.

Dourov N et. al. () [Agenesia of the pancreas. Anatomo-clinical observations of a case of diabetes mellitus, with steatorrhea and hypotrophy, in a newborn infant].

[^]
148.

Howard CP et. al. (1980) Long-term survival in a case of functional pancreatic agenesis.

[^]
149.

Widness JA et. al. (1982) Permanent neonatal diabetes in an infant of an insulin-dependent mother.

[^]
150.

Wildling R et. al. (1993) Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons.

[^]
151.

Stoffers DA et. al. (1997) Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.

[^]
152.

Thomas IH et. al. (2009) Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.

[^]
153.

Nicolino M et. al. (2010) A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.

[^]
154.

Fajans SS et. al. (2010) Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.

[^]