Confirmation of the origin of NISCH syndrome

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...

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Bibliographic Details
Published in:Human mutation 2006-05, Vol.27 (5), p.408-410
Main Authors: Feldmeyer, L., Huber, M., Fellmann, F., Beckmann, J.S., Frenk, E., Hohl, D.
Format: Article
Language:English
Subjects:
Adolescent
Cholangitis, Sclerosing - diagnosis
Cholangitis, Sclerosing - genetics
Claudin-1
CLDN1
Female
Frameshift Mutation
Humans
Ichthyosis - diagnosis
Ichthyosis - genetics
Membrane Proteins - genetics
Membrane Proteins - metabolism
NISCH syndrome
Skin - cytology
Syndrome
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Summary: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.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.20333