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Arch Dermatol. 2005 Feb;141(2):193-6.

Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria.

Author information

1
Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, and Key Laboratory of Genome Research at Anhui, Hefei, China.

Abstract

OBJECTIVE:

To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH).

DESIGN:

Pedigree study.

SETTING:

Anhui province of China.

PATIENTS:

Two Chinese families, consisting of 19 individuals (family 1) and 5 individuals (family 2).

INTERVENTIONS:

We directly performed mutation detection of the DSRAD gene in 2 Chinese families with DSH by sequencing. The whole coding region of DSRAD was amplified by polymerase chain reaction, and products were analyzed by direct sequencing.

MAIN OUTCOME MEASURES:

Frameshift DSRAD gene mutations.

RESULTS:

The c.3513insC (Arg1171fs) mutation was found in all patients but not in the healthy individuals from family 1, and the c.3220_3224delGCATC (Gly1073fs) mutation was found in 2 patients but not in the healthy members of family 2. These 2 mutations were not found in 96 unrelated control individuals.

CONCLUSION:

Our data suggest that these 2 novel frameshift mutations in the DSRAD gene could cause DSH in the Chinese Han population and add new variants to the repertoire of DSRAD mutations in DSH.

PMID:
15724015
DOI:
10.1001/archderm.141.2.193
[Indexed for MEDLINE]
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