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PMID: 12916015 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

American journal of human genetics ·Vol. 73 ·No. 3 ·2003-09-00 ·Pages 693-9

Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y

Abstract

Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. To determine the gene responsible for this disease, we performed a genomewide search in three families with DSH and mapped the DSH locus to chromosome 1q21.3. The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene.

MeSH Terms
Adenosine Deaminase/genetics Amino Acid Sequence Animals Female Foot Hand Haplotypes Humans Male Molecular Sequence Data Mutation Pedigree Pigmentation Disorders/enzymology,genetics RNA-Binding Proteins
Chemicals
RNA-Binding Proteins ADARB1 protein, human Adenosine Deaminase
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Miyamura Yoshinori
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Suzuki Tamio
Kono Michihiro
Inagaki Katsuhiko
Ito Shiro
Suzuki Noriyuki
Tomita Yasushi
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/378209
Published
2003-09-00
Epub
2003-00-11
Pages
693-9
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1180697
Subset
IM
Databases
GENBANK
BU437798, CA359632, CB449783, CB553335, T16913, T30340
External Links
PubMed source DOI: 10.1086/378209 PMC Full Text View journal details
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