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First prenatal diagnosis by mutation analysis in a family with Sjögren–Larsson syndrome

✍ Scribed by A. Sillén; G. Holmgren; C. Wadelius

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
33 KB
Volume
17
Category
Article
ISSN
0197-3851

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✦ Synopsis

Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene. Prenatal diagnosis and PCR-based mutation analysis was performed in a pregnancy where the parents are heterozygous carriers for this mutation. The fetus was found to be homozygous for the mutation and thus affected by SLS. 1997 by John Wiley & Sons, Ltd.

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