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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 Hennies37
Estimated H-index: 37
(University of Cologne)
+ 9 AuthorsE.H. El-Harith1
Estimated H-index: 1
(MHH: Hannover Medical School)
Cite
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.
  • References (26)
  • Citations (29)
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References26
Newest
Published on Feb 1, 2007in Journal of Investigative Dermatology6.29
Noboru Suzuki21
Estimated H-index: 21
(Nagoya University),
Tamio Suzuki24
Estimated H-index: 24
(Nagoya University)
+ 9 AuthorsYumi Aoyama23
Estimated H-index: 23
(Gidai: Gifu University)
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.
Published on Jan 1, 2007in Acta Dermato-venereologica
Hou Y1
Estimated H-index: 1
,
Chen J1
Estimated H-index: 1
+ 5 AuthorsX. Zhang68
Estimated H-index: 68
Dyschromatosis symmetrica hereditaria (OMIM127400) is a rare autosomal dominant pigmentary genodermatosis caused by mutations in the RNA-specific adenosine deaminase (ADAR) gene. This study investigated 5 families and 3 sporadic patients with dyschromatosis symmetrica hereditaria in the Chinese Han population from Anhui province, China. By direct sequencing, 5 novel ADAR gene mutations (c.982C > T, c.1491insA, c.2568_ 2571delTAAC, c.2969C > G and c.3040G > T) and 3 mutations described previously...
Published on Nov 16, 2006in Archives of Dermatological Research2.31
Qingqiang Xu4
Estimated H-index: 4
(Xi'an Jiaotong University),
Shengxiang Xiao1
Estimated H-index: 1
(Xi'an Jiaotong University)
+ 6 AuthorsYan Liu1
Estimated H-index: 1
(Xi'an Jiaotong University)
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on face and dorsal aspects of the extremities that appear in infancy or early childhood. Genetic studies have identified mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we report two novel mutations c.2116 G > A (E706K)...
Published on Aug 1, 2006in British Journal of Dermatology6.71
Yuehu Liu9
Estimated H-index: 9
(Xi'an Jiaotong University),
Shengxiang Xiao11
Estimated H-index: 11
(Xi'an Jiaotong University)
+ 4 AuthorsXiaolei Li4
Estimated H-index: 4
(Xi'an Jiaotong University)
Published on Apr 1, 2006in British Journal of Dermatology6.71
Qing Liu9
Estimated H-index: 9
(Peking Union Medical College),
Li Jiang11
Estimated H-index: 11
(PRC: China Medical University (PRC))
+ 7 AuthorsXiaodong Zhang48
Estimated H-index: 48
(PRC: China Medical University (PRC))
Summary Background Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is a dominantly inherited skin disease associated with mutations in ADAR, the gene that encodes a double-stranded RNA-specific adenosine deaminase. We previously reported two novel ADAR mutations (p.Q513X and p.R916W) and confirmed the role of ADAR in Chinese patients with DSH. Both haploinsufficiency and a dominant-negative effect have been suggested as the potential mechanism by which ADAR mutations cause DSH. Objective...
Published on Jan 1, 2006in European Journal of Dermatology3.09
Sheau-Chiou Chao14
Estimated H-index: 14
,
Ching Yuang Huang1
Estimated H-index: 1
,
Mei Hui Yang1
Estimated H-index: 1
(NCKU: National Cheng Kung University)
Published on Nov 1, 2005in Archives of Dermatological Research2.31
Ming Li11
Estimated H-index: 11
,
Chengrang Li3
Estimated H-index: 3
(Nanjing Medical University)
+ 3 AuthorsLi-Jia Yang6
Estimated H-index: 6
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities. Pathogenic mutations in the DSRAD gene have recently been identified. In this study, we report and identify the mutations of the DSRAD gene in two Chinese pedigrees with DSH. Two novel mutations in the functional domains of the DSRAD gene were identified and verified in two pedigrees. The c.3244A>G ...
Published on Nov 1, 2005in British Journal of Dermatology6.71
S‐C. Chao8
Estimated H-index: 8
(NCKU: National Cheng Kung University),
Jun-Young Lee22
Estimated H-index: 22
(NCKU: National Cheng Kung University)
+ 1 AuthorsM‐H. Yang3
Estimated H-index: 3
(NCKU: National Cheng Kung University)
Published on Oct 1, 2005in Nature Genetics25.45
Daniel F. Gudbjartsson86
Estimated H-index: 86
(deCODE genetics),
Thorvaldur Thorvaldsson1
Estimated H-index: 1
(deCODE genetics)
+ 2 AuthorsAnna Ingólfsdóttir18
Estimated H-index: 18
(AAU: Aalborg University)
Cited By29
Newest
Published on Jan 1, 2018
Melanin ist ein wichtiges endogenes Pigment der Haut. Es wird dort von speziellen Zellen, den Melanozyten, die der Neuralleiste entstammen, und in speziellen Organellen, den Melanosomen, gebildet. Das Melanin wird an benachbarte Keratinozyten abgegeben. Dieser komplexe Prozess der Melanogenese, ist zum grosen Teil genetisch determiniert, allerdings auch von exogenen Reizen beeinflussbar, besonders UV-Strahlung. Storungen der Melaninpigmentierung haben deshalb medizinisch bedeutsame Konsequenzen ...
Published on Oct 1, 2017in British Journal of Dermatology6.71
Jian Zhang11
Estimated H-index: 11
(SJTU: Shanghai Jiao Tong University),
M. Li4
Estimated H-index: 4
(SJTU: Shanghai Jiao Tong University),
Zhirong Yao13
Estimated H-index: 13
(SJTU: Shanghai Jiao Tong University)
Summary Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat ...
Published on Sep 1, 2017in Journal of Investigative Dermatology6.29
Marwa Chourabi2
Estimated H-index: 2
(Agency for Science, Technology and Research),
Mei Shan Liew1
Estimated H-index: 1
(""L'Oréal"": L'Oréal)
+ 17 AuthorsKim Robinson3
Estimated H-index: 3
(Agency for Science, Technology and Research)
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrop...
Ding'an Zhou2
Estimated H-index: 2
(CQMU: Chongqing Medical University),
Zhiyun Wei16
Estimated H-index: 16
(SJTU: Shanghai Jiao Tong University)
+ 16 AuthorsJing Wang1
Estimated H-index: 1
(CQMU: Chongqing Medical University)
p53-Transcriptional-regulated proteins interact with a large number of other signal transduction pathways in the cell, and a number of positive and negative autoregulatory feedback loops act upon the p53 response. P53 directly controls the POMC/α-MSH productions induced by ultraviolet (UV) and is associated with UV-independent pathological pigmentation. When identifying the causative gene of dyschromatosis universalis hereditaria (DUH), we found three mutations encoding amino acid substitutions ...
Published on Jan 1, 2017
Thuy L. Phung17
Estimated H-index: 17
(BCM: Baylor College of Medicine),
Teresa S. Wright (UTHSC: University of Tennessee Health Science Center)+ 1 AuthorsBruce R. Smoller43
Estimated H-index: 43
(UR: University of Rochester)
Human variability is most strikingly defined by variations in skin and hair color. Skin pigmentation is primarily a result of melanocyte functioning. However, surrounding keratinocytes, extracellular matrix proteins and dermal fibroblasts also play a role in cutaneous homeostasis and the phenotypic demonstration of color.
Published on Jan 1, 2017in Dermatology Research and Practice
H. Alshaikh1
Estimated H-index: 1
,
F. Alsaif1
Estimated H-index: 1
,
S. Aldukhi1
Estimated H-index: 1
Reticulated pigmentation is a unique pigmentary change caused by a heterogeneous group of hereditary and acquired disorders. This pigmentation is characterized by a mottled appearance, with lesions that vary in size and pigmentary content. This review discusses the hereditary group of the reticulated pigmentation disorders, such as dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria, and reticulate acropigmentation of Kitamura. The clinical presentation and histopatholo...
Published on Feb 1, 2016in Piel
Víctor Pinos-León1
Estimated H-index: 1
,
Jennyfer Granizo-Rubio (Central University of Ecuador)
Published on Nov 1, 2015in Pediatric Dermatology1.18
Robert H. Sorensen1
Estimated H-index: 1
(San Antonio Military Medical Center),
Kimberly A. Werner1
Estimated H-index: 1
(San Antonio Military Medical Center),
Todd T. Kobayashi1
Estimated H-index: 1
(San Antonio Military Medical Center)
Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary genodermatosis characterized by reticulated hyper- and hypopigmented macules distributed over the trunk and extremities in otherwise healthy patients. DUH presents in a fashion similar to that of a variety of reticulate and pigmentary dermatoses, some of which are associated with precancerous entities and other comorbidities. It is therefore imperative that the clinician recognize and differentiate these disorders so that appropri...
Published on Apr 1, 2015in Case Reports in Dermatology
Salinee Rojhirunsakool1
Estimated H-index: 1
,
Vasanop Vachiramon9
Estimated H-index: 9
Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and hyperpigmented macules. We report a case of DUH with unexplained childhood-onset renal failure. The association between DUH and renal failure is yet to be proven by further studies.
View next paperDyschromatosis universalis hereditaria: Report of a case and review of the literature