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01-08-2007 | Short Communication

A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria

Authors: Ming Li, Li-Jia Yang, Yi-Xin Shi, Hong-Yu Huang

Published in: Archives of Dermatological Research | Issue 5-6/2007

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities. Pathogenic mutations in the DSRAD gene have been identified. In this report, we identified a Chinese family with a three-generation pedigree of DSH, in which a novel heterozygous nucleotide G→A transition was found. It is at position 3,125 in exon 12 of the DSRAD gene which induces a R1042H change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH.

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Title: A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria
Authors: Ming Li
Li-Jia Yang
Yi-Xin Shi
Hong-Yu Huang
Publication date: 01-08-2007
Publisher: Springer-Verlag
Published in: Archives of Dermatological Research / Issue 5-6/2007
Print ISSN: 0340-3696
Electronic ISSN: 1432-069X
DOI: https://doi.org/10.1007/s00403-007-0762-9

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A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria

Abstract

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Abstract

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