Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Verzögerte spondyloepiphysäre Dysplasie

Die verzögerte spondyloepiphysäre Dysplasie ist eine x-chromosomal rezessive Erkrankung, die durch Mutationen im TRAPPC2 gen hervorgerufen wird. Es existieren auch autosomal dominante und recessive Formen der Erkrankung, deren zugrundeliegende Gene aber noch nicht identifiziert werden konnten.

Gliederung

Erbliche Fehlbildungen
Angeborene Fehlbildungen des Urogenitalsystems
Angeborene Skelettfelbildungen
Bohring-Opitz-Syndrom
Verzögerte spondyloepiphysäre Dysplasie
TRAPPC2

Referenzen:

1.

Wynne-Davies R et al. (1985) The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care.

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2.

Szpiro-Tapia S et al. (1988) Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.

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3.

Iceton JA et al. (1986) Spondylo-epiphyseal dysplasia tarda. The X-linked variety in three brothers.

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4.

Bannerman RM et al. (1971) X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.

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5.

Branford WA et al. (1982) Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma.

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6.

Heuertz S et al. (1993) The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.

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7.

Bernard LE et al. (1996) Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.

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8.

Whyte MP et al. (1999) X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.

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9.

Gedeon AK et al. (1999) Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

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10.

MAROTEAUX P et al. (1957) [Not Available].

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11.

None (1960) An unusual form of familial osteodystrophy.

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12.

None (1964) SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT.

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13.

Bar-Yosef U et al. (2004) X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.

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14.

Venditti R et al. (2012) Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.

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Update: 25. Oktober 2019