Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Asphyxierende Thoraxdyplasie 03

Das SRTD-Syndrom 3 (Short-rib thoracic dysplasia) ist eine autosomal rezessive oder digenisch rezessive Erkrankung, die durch Mutationen im Gen NEK1 hervorgerufen wird.

Gliederung

Asphyxierende Thoraxdyplasie
Asphyxierende Thoraxdyplasie 01
Asphyxierende Thoraxdyplasie 02
Asphyxierende Thoraxdyplasie 03
DYNC2H1
Asphyxierende Thoraxdyplasie 04
Asphyxierende Thoraxdyplasie 05
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Asphyxierende Thoraxdyplasie 07
Asphyxierende Thoraxdyplasie 08
Asphyxierende Thoraxdyplasie 09
Asphyxierende Thoraxdyplasie 10
Asphyxierende Thoraxdyplasie 11
Asphyxierende Thoraxdyplasie 12
Asphyxierende Thoraxdyplasie 13
Asphyxierende Thoraxdyplasie 14
Asphyxierende Thoraxdyplasie 15
Asphyxierende Thoraxdyplasie 16
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Asphyxierende Thoraxdyplasie 18
Asphyxierende Thoraxdyplasie 19

Referenzen:

1.

El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

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2.

Merrill AE et al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

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3.

Dagoneau N et al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

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4.

Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

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5.

Schmidts M et al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

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6.

Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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7.

Mill P et al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

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8.

Huber C et al. (2012) Ciliary disorder of the skeleton.

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9.

Naumoff P et al. (1977) Short rib-polydactyly syndrome type 3.

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10.

Richardson MM et al. (1977) Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism.

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11.

Lowry RB et al. (1975) Saldino-Noonan short rib-polydactyly dwarfism syndrome;.

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12.

Yang SS et al. (1987) Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.

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13.

Bernstein R et al. (1985) Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

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14.

Le Marec B et al. () [Lethal neonatal forms of chondroectodermal dysplasia. Apropos of 5 cases].

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15.

Spranger J et al. (1974) Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

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16.

Saldino RM et al. (1972) Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies.

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17.

Yang SS et al. (1980) Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.

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18.

None (1980) Non-Majewski short rib-polydactyly syndrome.

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19.

Wu MH et al. (1995) Prenatal diagnosis of recurrence of short rib-polydactyly syndrome.

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20.

Urioste M et al. (1994) Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.

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21.

Martínez-Frías ML et al. (1993) Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

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22.

Meizner I et al. (1995) Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report.

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23.

Sarafoglou K et al. (1999) Short rib-polydactyly syndrome: more evidence of a continuous spectrum.

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24.

Ho NC et al. (2000) Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.

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25.

Krakow D et al. (2000) Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

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26.

Elçioglu NH et al. (2002) Diagnostic dilemmas in the short rib-polydactyly syndrome group.

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27.

Takamine Y et al. (2004) Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.

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28.

OMIM.ORG article

Omim 613091 [^]
Update: 10. Mai 2019