Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SRTD-Syndrom (Short-rib thoracic dysplasia) 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

SRTD-Syndrom (Short-rib thoracic dysplasia)
SRTD-Syndrom (Short-rib thoracic dysplasia) 01
SRTD-Syndrom (Short-rib thoracic dysplasia) 02
SRTD-Syndrom (Short-rib thoracic dysplasia) 03
DYNC2H1
SRTD-Syndrom (Short-rib thoracic dysplasia) 04
SRTD-Syndrom (Short-rib thoracic dysplasia) 05
SRTD-Syndrom (Short-rib thoracic dysplasia) 06
SRTD-Syndrom (Short-rib thoracic dysplasia) 07
SRTD-Syndrom (Short-rib thoracic dysplasia) 08
SRTD-Syndrom (Short-rib thoracic dysplasia) 09
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 11
SRTD-Syndrom (Short-rib thoracic dysplasia) 12
SRTD-Syndrom (Short-rib thoracic dysplasia) 13
SRTD-Syndrom (Short-rib thoracic dysplasia) 14
SRTD-Syndrom (Short-rib thoracic dysplasia) 15
SRTD-Syndrom (Short-rib thoracic dysplasia) 16
SRTD-Syndrom (Short-rib thoracic dysplasia) 17
SRTD-Syndrom (Short-rib thoracic dysplasia) 18
SRTD-Syndrom (Short-rib thoracic dysplasia) 19

Referenzen:

1.

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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2.

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

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3.

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

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4.

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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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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Update: 26. September 2018

 

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