Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Achondroplasie

Die Achondroplasie ist eine autosomal dominante Erkrankung, die durch Mutationen im FGFR3-Gen ausgelöst wird.

Gliederung

Knochendysplasie
Achondroplasie
FGFR3
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Brachydaktylie Typ E2
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

McKusick VA et. al. (1973) Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

[^]
2.

Superti-Furga A et. al. (1995) A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

[^]
3.

Bellus GA et. al. (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3.

[^]
4.

Shiang R et. al. (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

[^]
5.

Rousseau F et. al. (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

[^]
6.

Huggins MJ et. al. (1999) Achondroplasia-hypochondroplasia complex in a newborn infant.

[^]
7.

Chitayat D et. al. (1999) Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

[^]
8.

Henderson S et. al. (2000) Germline and somatic mosaicism in achondroplasia.

[^]
9.

Sobetzko D et. al. (2000) Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.

[^]
10.

Yasoda A et. al. (2004) Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway.

[^]
11.

Van Esch H et. al. (2004) Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.

[^]
12.

Rump P et. al. (2006) Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.

[^]
13.

Heuertz S et. al. (2006) Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

[^]
14.

Natacci F et. al. (2008) Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

[^]
15.

Matsushita T et. al. (2009) FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.

[^]
16.

Siebens AA et. al. (1978) Curves of the achondroplastic spine: a new hypothesis.

[^]
17.

Oberklaid F et. al. (1979) Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.

[^]
18.

Hall JG et. al. (1979) Failure to early prenatal diagnosis in classic achondroplasia.

[^]
19.

Horton WA et. al. (1978) Standard growth curves for achondroplasia.

[^]
20.

None (1977) A new estimate of the achondroplasia mutation rate.

[^]
21.

Yang SS et. al. (1977) Upper cervical myelopathy in achondroplasia.

[^]
22.

Young ID et. al. (1992) Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

[^]
23.

Horton WA et. al. (1992) Growth hormone therapy in achondroplasia.

[^]
24.

Finkelstein JE et. al. (1991) Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

[^]
25.

Hecht JT et. al. (1991) Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates.

[^]
26.

Verloes A et. al. (1991) Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia?

[^]
27.

Martínez-Frías ML et. al. (1991) Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes.

[^]
28.

Pulst SM et. al. (1990) The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17.

[^]
29.

Stanescu R et. al. (1990) Homozygous achondroplasia: morphologic and biochemical study of cartilage.

[^]
30.

Andersen PE et. al. (1989) Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.

[^]
31.

Stoll C et. al. (1989) Birth prevalence rates of skeletal dysplasias.

[^]
32.

Edwards JH et. al. (1988) Neurofibromatosis.

[^]
33.

Francomano CA et. al. (1988) Achondroplasia is not caused by mutation in the gene for type II collagen.

[^]
34.

Eng CE et. al. (1985) Nonrandom association of a type II procollagen genotype with achondroplasia.

[^]
35.

Ogilvie D et. al. (1986) Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.

[^]
36.

Randolph LM et. al. (1988) Achondroplasia with ankylosing spondylitis.

[^]
37.

Hecht JT et. al. (1988) Obesity in achondroplasia.

[^]
38.

Philip N et. al. (1988) Achondroplasia in sibs of normal parents.

[^]
39.

Nelson FW et. al. (1988) Neurological basis of respiratory complications in achondroplasia.

[^]
40.

Pyeritz RE et. al. (1987) Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients.

[^]
41.

Sommer A et. al. (1987) Achondroplasia-hypochondroplasia complex.

[^]
42.

Hecht JT et. al. (1987) Mortality in achondroplasia.

[^]
43.

Dodinval P et. al. (1987) Genetic counselling in unexpected familial recurrence of achondroplasia.

[^]
44.

Orioli IM et. al. (1986) The birth prevalence rates for the skeletal dysplasias.

[^]
45.

Thompson JN et. al. (1986) Achondroplasia and parental age.

[^]
46.

None (1985) Familial recurrence of achondroplasia.

[^]
47.

Rimoin DL et. al. (1970) Endochondral ossification in achondroplastic dwarfism.

[^]
48.

Cohen ME et. al. (1967) Neurological abnormalities in achondroplastic children.

[^]
49.

Wallace DC et. al. (1970) Severe achondroplasia: demonstration of probable heterogeneity within this clinical syndrome.

[^]
50.

Murdoch JL et. al. (1970) Achondroplasia--a genetic and statistical survey.

[^]
51.

None (1968) [A new form of dysostosis with micromelia in 2 siblings].

[^]
52.

Maroteaux P et. al. () Achondroplasia in man and animals.

[^]
53.

None (1966) Renewal of spermatogonia in man.

[^]
54.

Langer LO et. al. (1967) Achondroplasia.

[^]
55.

Aterman K et. al. (1983) Presumed homozygous achondroplasia. A review and report of a further case.

[^]
56.

Reiser CA et. al. (1984) Achondroplasia: unexpected familial recurrence.

[^]
57.

None (1984) "Unstable premutation" in achondroplasia: penetrance vs phenotrance.

[^]
58.

Fryns JP et. al. (1983) Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents.

[^]
59.

Pauli RM et. al. (1983) Homozygous achondroplasia with survival beyond infancy.

[^]
60.

Pauli RM et. al. (1984) Apnea and sudden unexpected death in infants with achondroplasia.

[^]
61.

Fremion AS et. al. (1984) Apnea as the sole manifestation of cord compression in achondroplasia.

[^]
62.

None (1984) Alternative explanations for recurrent achondroplasia in siblings of normal parents.

[^]
63.

Elejalde BR et. al. (1983) Prenatal diagnosis in two pregnancies of an achondroplastic woman.

[^]
64.

Hall JG et. al. (1982) Head growth in achondroplasia: use of ultrasound studies.

[^]
65.

Beighton P et. al. (1981) Gibbal achondroplasia.

[^]
66.

Morgan DF et. al. (1980) Spinal neurological complications of achondroplasia. Results of surgical treatment.

[^]
67.

Pierre-Kahn A et. al. (1980) Hydrocephalus and achondroplasia. A study of 25 observations.

[^]
68.

Pauli RM et. al. (1995) Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia.

[^]
69.

Woods CG et. al. (1994) Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

[^]
70.

Bellus GA et. al. (1994) First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia.

[^]
71.

Velinov M et. al. (1994) The gene for achondroplasia maps to the telomeric region of chromosome 4p.

[^]
72.

Le Merrer M et. al. (1994) A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

[^]
73.

Francomano CA et. al. (1994) Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

[^]
74.

Langer LO et. al. (1993) Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type.

[^]
75.

Beighton P et. al. (1993) Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.

[^]
76.

Peters K et. al. (1993) Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis.

[^]
77.

Waters KA et. al. (1995) Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials.

[^]
78.

Weber G et. al. (1996) Human growth hormone treatment in prepubertal children with achondroplasia.

[^]
79.

Hunter AG et. al. (1996) Standard weight for height curves in achondroplasia.

[^]
80.

Shohat M et. al. (1996) Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia.

[^]
81.

None (1997) Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective.

[^]
82.

None (1997) Molecular evolution--who is in the driver's seat?

[^]
83.

Ellegren H et. al. (1997) Male-driven evolution of DNA sequences in birds.

[^]
84.

Hunter AG et. al. (1998) Medical complications of achondroplasia: a multicentre patient review.

[^]
85.

Tasker RC et. al. (1998) Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study.

[^]
86.

Pauli RM et. al. (1999) Jugular bulb dehiscence in achondroplasia.

[^]
87.

Boor R et. al. (1999) Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia.

[^]
88.

Mettler G et. al. (2000) Recurrence risk for sibs of children with "sporadic" achondroplasia.

[^]
89.

Reynolds KK et. al. (2001) Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia.

[^]
90.

Tiemann-Boege I et. al. (2002) The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.

[^]
91.

Aviezer D et. al. (2003) Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism.

[^]
92.

Flynn MA et. al. (2003) Double heterozygosity in bone growth disorders: four new observations and review.

[^]
93.

COHN S et. al. (1956) Identical hydrocephalic achondroplastic twins; subsequent delivery of single sibling with same abnormalities.

[^]
94.

None (1957) Parental age in acondroplasia and mongolism.

[^]
95.

DENNIS JP et. al. (1961) Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia.

[^]
96.

Stoll C et. al. (2004) Do parents and grandparents of patients with achondroplasia have a higher cancer risk?

[^]
97.

None (2006) Recent milestones in achondroplasia research.

[^]
98.

None (2006) Dwarfs in ancient Egypt.

[^]
99.

Bernal JE et. al. (2006) Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.

[^]
100.

Hoover-Fong JE et. al. (2007) Weight for age charts for children with achondroplasia.

[^]
101.

Wynn J et. al. (2007) Mortality in achondroplasia study: a 42-year follow-up.

[^]
102.

Waller DK et. al. (2008) The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

[^]
103.

None (2008) Skeletal dysplasia in ancient Egypt.

[^]
104.

Lorget F et. al. (2012) Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.

[^]