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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Dyschromatosis universalis hereditaria: Evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23
Clinical Genetics, Volume 73, No. 6, Year 2008
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Description
Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive inheritance was reported. DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese families with autosomal dominant DSH. A second locus for dyschromatosis was mapped on chromosome 6q24.2-q25.2 in two Chinese families initially reported to be affected with DSH, but later suggested to have autosomal dominant DUH. The aim of this study was to investigate whether one of these two loci is involved in the development of DUH in a consanguineous Bedouin family from Saudi Arabia with four affected and three unaffected sibs, clearly pointing to autosomal recessive inheritance. After excluding mutations in ADAR and linkage to the candidate regions on chromosomes 1 and 6, we performed an single nucleotide polymorphism-based genome-wide scan for linkage with other loci. Under the assumption of autosomal recessive inheritance, we have identified a new locus for dyschromatosis on chromosome 12q21-q23 in this Arab family with a maximum logarithm of the odds (LOD) score of 3.4, spanning a distance of 18.9cM. Our study revealed the first locus for autosomal recessive DUH and supports recent evidence that DSH and DUH are genetically distinct disorders. © 2008 The Author Journal compilation © 2008 Blackwell Munksgaard.
Authors & Co-Authors
Stuhrmann, Manfred
Germany, Hannover
Hannover Medical School
Hennies, Hans C.
Germany, Koln
Universität zu Köln
Bukhari, I. A.
Saudi Arabia, Dammam
Imam Abdulrahman Bin Faisal University
Brakensiek, K.
Germany, Hannover
Hannover Medical School
Nürnberg, Gudrun
Germany, Koln
Universität zu Köln
Germany, Berlin
Imagenes Gmbh
Becker, Christian F.W.
Germany, Koln
Universität zu Köln
Germany, Berlin
Imagenes Gmbh
Huebener, J.
Germany, Koln
Universität zu Köln
Germany, Tubingen
Eberhard Karls Universität Tübingen
Miranda, M. C.
Germany, Hannover
Hannover Medical School
Frye-Boukhriss, Hildegard
Germany, Hannover
Hannover Medical School
Knothe, S.
Germany, Hannover
Hannover Medical School
Schmidtke, J.
Germany, Hannover
Hannover Medical School
El-Harith, E. A.
Germany, Hannover
Hannover Medical School
Statistics
Citations: 43
Authors: 12
Affiliations: 5
Identifiers
Doi:
10.1111/j.1399-0004.2008.01000.x
ISSN:
00099163
e-ISSN:
13990004
Research Areas
Genetics And Genomics