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Achondroplasie

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

Gliederung

Knochendysplasie
Achondroplasie
FGFR3
Achondroplasie-SCID-Syndrom
Akro-capito-femorale Dysplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Cherubismus
Chondrodysplasie
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteofibröse dysplasie
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.

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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.

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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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.

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10.

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

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11.

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

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12.

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

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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.

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

Edwards JH et al. (1988) Neurofibromatosis.

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33.

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

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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

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39.

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

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40.

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

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41.

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

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42.

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

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43.

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

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44.

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

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45.

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

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46.

None (1985) Familial recurrence of achondroplasia.

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47.

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

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48.

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

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49.

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

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50.

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

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51.

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

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52.

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

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53.

None (1966) Renewal of spermatogonia in man.

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54.

Langer LO et al. (1967) Achondroplasia.

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55.

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

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56.

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

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57.

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

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58.

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

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59.

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

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60.

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

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61.

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

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62.

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

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63.

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

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64.

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

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65.

Beighton P et al. (1981) Gibbal achondroplasia.

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66.

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

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67.

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

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68.

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

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69.

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

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70.

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

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71.

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

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72.

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

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73.

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

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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.

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75.

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

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76.

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

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77.

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

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78.

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

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79.

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

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80.

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

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81.

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

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82.

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

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83.

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

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84.

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

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85.

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

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86.

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

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87.

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

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88.

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

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89.

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

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90.

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

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91.

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

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92.

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

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93.

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

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94.

None (1957) Parental age in acondroplasia and mongolism.

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95.

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

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96.

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

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97.

None (2006) Recent milestones in achondroplasia research.

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98.

None (2006) Dwarfs in ancient Egypt.

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99.

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

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100.

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

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101.

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

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102.

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

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103.

None (2008) Skeletal dysplasia in ancient Egypt.

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104.

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

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105.

OMIM.ORG article

Omim 100800 external link
106.

Orphanet article

Orphanet ID 15 external link
107.

Wikipedia Artikel

Wikipedia DE (Achondroplasie) external link
Update: 14. August 2020
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