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Confirmation of the origin of NISCH syndrome
Author(s) -
Feldmeyer L.,
Huber M.,
Fellmann F.,
Beckmann J.S.,
Frenk E.,
Hohl D.
Publication year - 2006
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20333
Subject(s) - ichthyosis , biology , hypotrichosis , genetics , mutation , dermatology , gene , scalp , anatomy , medicine
Neonatal ichthyosis‐sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin‐1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene. Hum Mutat 27(5), 408–410, 2006. © 2006 Wiley‐Liss, Inc.