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

Published on May 7, 2008in Clinical Genetics4.10
· DOI :10.1111/j.1399-0004.2008.01000.x
M. Stuhrmann2
Estimated H-index: 2
(MHH: Hannover Medical School),
Hans Christian Hennies45
Estimated H-index: 45
(University of Cologne)
+ 9 AuthorsE.H. El-Harith1
Estimated H-index: 1
(MHH: Hannover Medical School)
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.
  • References (27)
  • Citations (29)
#1Noboru Suzuki (Nagoya University)H-Index: 21
#2Tamio Suzuki (Nagoya University)H-Index: 24
Last.Yasushi Tomita (Nagoya University)H-Index: 10
view all 12 authors...
26 CitationsSource
#1Hou YH-Index: 1
#2Jianjun ChenH-Index: 17
Last.Xuejun ZhangH-Index: 12
view all 8 authors...
19 CitationsSource
#1Qingqiang Xu (Xi'an Jiaotong University)H-Index: 4
#2Shengxiang Xiao (Xi'an Jiaotong University)H-Index: 1
Last.Yan Liu (Xi'an Jiaotong University)H-Index: 1
view all 9 authors...
7 CitationsSource
#1Yuehu Liu (Xi'an Jiaotong University)H-Index: 11
#2Shengxiang Xiao (Xi'an Jiaotong University)H-Index: 11
Last.Xifei Li (Xi'an Jiaotong University)H-Index: 46
view all 7 authors...
10 CitationsSource
18 CitationsSource
#1Qing Liu (Peking Union Medical College)H-Index: 9
#2Li Jiang (PRC: China Medical University (PRC))H-Index: 12
Last.Xiaodong Zhang (PRC: China Medical University (PRC))H-Index: 64
view all 10 authors...
46 CitationsSource
#1Sheau-Chiou ChaoH-Index: 15
#2Ching Yuang HuangH-Index: 1
Last.Mei Hui Yang (NCKU: National Cheng Kung University)H-Index: 1
view all 3 authors...
8 Citations
#1Ming LiH-Index: 12
#2Cheng-Rang Li (Nanjing Medical University)H-Index: 3
Last.Li-Jia YangH-Index: 7
view all 6 authors...
16 CitationsSource
#1S‐C. Chao (NCKU: National Cheng Kung University)H-Index: 8
#2Jun-Young Lee (NCKU: National Cheng Kung University)H-Index: 24
Last.M‐H. Yang (NCKU: National Cheng Kung University)H-Index: 3
view all 4 authors...
17 CitationsSource
#1Daniel F. Gudbjartsson (deCODE genetics)H-Index: 91
#2Thorvaldur Thorvaldsson (deCODE genetics)H-Index: 1
Last.Anna Ingólfsdóttir (AAU: Aalborg University)H-Index: 19
view all 5 authors...
184 CitationsSource
Cited By29
#2Jiawei ZengH-Index: 2
view all 8 authors...
#1Jian Zhang (SJTU: Shanghai Jiao Tong University)H-Index: 29
#2Minglu Li (SJTU: Shanghai Jiao Tong University)H-Index: 36
Last.Zhirong Yao (SJTU: Shanghai Jiao Tong University)H-Index: 13
view all 3 authors...
11 CitationsSource
#1Marwa Chourabi (Agency for Science, Technology and Research)H-Index: 2
#2Mei Shan Liew (""L'Oréal"": L'Oréal)H-Index: 1
Last.Bruno Reversade (Agency for Science, Technology and Research)H-Index: 28
view all 20 authors...
2 CitationsSource
#1Ding'an Zhou (Fudan University)H-Index: 3
#2Zhiyun Wei (SJTU: Shanghai Jiao Tong University)H-Index: 17
Last.Qinghe Xing (Fudan University)H-Index: 27
view all 19 authors...
3 CitationsSource
#1Thuy L. Phung (BCM: Baylor College of Medicine)H-Index: 17
#2Teresa S. Wright (UTHSC: University of Tennessee Health Science Center)H-Index: 1
Last.Bruce R. Smoller (UR: University of Rochester)H-Index: 45
view all 4 authors...
#1H. AlshaikhH-Index: 1
#2Fahad AlsaifH-Index: 4
Last.S. AldukhiH-Index: 1
view all 3 authors...
4 CitationsSource
#2Jennyfer Granizo-Rubio (Central University of Ecuador)
#1Robert H. Sorensen (San Antonio Military Medical Center)H-Index: 1
#2Kimberly A. Werner (San Antonio Military Medical Center)H-Index: 1
Last.Todd T. Kobayashi (San Antonio Military Medical Center)H-Index: 1
view all 3 authors...
3 CitationsSource
2 CitationsSource
View next paperDyschromatosis universalis hereditaria: Report of a case and review of the literature