Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

M Stuhrmann, H C Hennies, I A Bukhari, K Brakensiek, G Nürnberg, C Becker, J Huebener, M C Miranda, H Frye-Boukhriss, S Knothe, J Schmidtke, E-H A El-Harith

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Abstract

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 18.9 cM. Our study revealed the first locus for autosomal recessive DUH and supports recent evidence that DSH and DUH are genetically distinct disorders.

LanguageEnglish
Pages566-572
Number of pages7
JournalClinical Genetics
Volume73
Issue number6
Early online date7 May 2008
DOIs
Publication statusPublished - Jun 2008
Externally publishedYes

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Chromosomes
Mutation
Chromosomes, Human, Pair 6
Saudi Arabia
Chromosomes, Human, Pair 1
Skin Diseases
Single Nucleotide Polymorphism
Japan
Dyschromatosis symmetrica hereditaria 1
Dyschromatosis universalis hereditaria
Genome
Genes

Cite this

Stuhrmann, M ; Hennies, H C ; Bukhari, I A ; Brakensiek, K ; Nürnberg, G ; Becker, C ; Huebener, J ; Miranda, M C ; Frye-Boukhriss, H ; Knothe, S ; Schmidtke, J ; El-Harith, E-H A. / Dyschromatosis universalis hereditaria : evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. In: Clinical Genetics. 2008 ; Vol. 73, No. 6. pp. 566-572.
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abstract = "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 18.9 cM. Our study revealed the first locus for autosomal recessive DUH and supports recent evidence that DSH and DUH are genetically distinct disorders.",
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Stuhrmann, M, Hennies, HC, Bukhari, IA, Brakensiek, K, Nürnberg, G, Becker, C, Huebener, J, Miranda, MC, Frye-Boukhriss, H, Knothe, S, Schmidtke, J & El-Harith, E-HA 2008, 'Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23', Clinical Genetics, vol. 73, no. 6, pp. 566-572. https://doi.org/10.1111/j.1399-0004.2008.01000.x

Dyschromatosis universalis hereditaria : evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. / Stuhrmann, M; Hennies, H C; Bukhari, I A; Brakensiek, K; Nürnberg, G; Becker, C; Huebener, J; Miranda, M C; Frye-Boukhriss, H; Knothe, S; Schmidtke, J; El-Harith, E-H A.

In: Clinical Genetics, Vol. 73, No. 6, 06.2008, p. 566-572.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Dyschromatosis universalis hereditaria

T2 - Clinical Genetics

AU - Stuhrmann, M

AU - Hennies, H C

AU - Bukhari, I A

AU - Brakensiek, K

AU - Nürnberg, G

AU - Becker, C

AU - Huebener, J

AU - Miranda, M C

AU - Frye-Boukhriss, H

AU - Knothe, S

AU - Schmidtke, J

AU - El-Harith, E-H A

PY - 2008/6

Y1 - 2008/6

N2 - 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 18.9 cM. Our study revealed the first locus for autosomal recessive DUH and supports recent evidence that DSH and DUH are genetically distinct disorders.

AB - 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 18.9 cM. Our study revealed the first locus for autosomal recessive DUH and supports recent evidence that DSH and DUH are genetically distinct disorders.

KW - Chromosomes, Human, Pair 12

KW - Consanguinity

KW - Family

KW - Genes, Recessive

KW - Genetic Linkage

KW - Genome, Human

KW - Humans

KW - Lod Score

KW - Pedigree

KW - Pigmentation Disorders

KW - Polymorphism, Single Nucleotide

KW - Saudi Arabia

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

UR - http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004

U2 - 10.1111/j.1399-0004.2008.01000.x

DO - 10.1111/j.1399-0004.2008.01000.x

M3 - Article

VL - 73

SP - 566

EP - 572

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 6

ER -