In:
Fetal Diagnosis and Therapy, S. Karger AG, Vol. 22, No. 2 ( 2007), p. 155-158
Abstract:
〈 i 〉 Objective: 〈 /i 〉 Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. 〈 i 〉 Methods: 〈 /i 〉 Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. 〈 i 〉 Results: 〈 /i 〉 The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. 〈 i 〉 Conclusions: 〈 /i 〉 This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.
Type of Medium:
Online Resource
ISSN:
1015-3837
,
1421-9964
Language:
English
Publisher:
S. Karger AG
Publication Date:
2007
detail.hit.zdb_id:
1482292-1
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