Ichthyosis prematurity syndrome: a case report and review of known mutations.
نویسندگان
چکیده
Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.
منابع مشابه
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene‐a case report from India
Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for this mutation. The occurrence of IPS in an Indian patient suggests that it is more widespread than previously reported.
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ورودعنوان ژورنال:
- Pediatric dermatology
دوره 31 4 شماره
صفحات -
تاریخ انتشار 2014