Mutations in the ADAR1 gene in 2 Chinese families with dyschromatosis symmetrica hereditaria

Zhang, G L; Shi, Haojie; Shao, Minhua; Li, M; Mu, Hui-Jun; Gu, Yong; Du, Xuewen; Xie, Peiying

doi:10.4238/2013.january.4.18

Cited by 3 publications

(2 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…NMD is a surveillance mechanism by which cells recognize and degrade mRNAs containing premature translation termination codons [ 9 ]. In family 5, we detected a nonsense mutation p.R474X, this mutation has been detected most frequently so far, and has been reported five times [ 3 , 4 , 10 ]. The hotspot mutation p.R474X has previously been reported in Chinese [ 4 , 10 ] and also in Japanese [ 3 ] in many studies, indicating a possible founder effect of this mutation.…”

Section: Discussionmentioning

confidence: 96%

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

Zhang

Shao

et al. 2016

BMC Med Genet

View full text Add to dashboard Cite

BackgroundDyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the full coding sequence of ADAR1 gene.MethodsADAR1 gene was sequenced in seven unrelated families and two sporadic cases with DSH and 120 controls. Functional significance of the observed ADAR1 mutations was analyzed using PolyPhen 2, SIFT and DDIG-in.ResultsWe describe six novel mutations of the ADAR1 gene in Chinese patients with DSH including a nonstop mutation p.Stop1227R, which was firstly reported in ADAR1 gene. In silico analysis proves that all the mutations reported here are pathogenic.ConclusionThis study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ADAR1 gene. A three-generation family exhibiting phenotypic variability with a single germline ADAR1 mutation suggests that chilblain might aggravate the clinical phenotypes of DSH.

show abstract

Section: Discussionmentioning

confidence: 96%

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

Zhang

Shao

et al. 2016

BMC Med Genet

View full text Add to dashboard Cite

show abstract

“…In two cases, the mutations led to a failed translation of the highly conserved ADEAMc domain, which might change the catalytical activity of ADAR1 enzyme, and the results supported that the deaminase domain was a hot spot for mutation. So far, more than 150 various mutations in ADAR1 gene have been identified, but the pathogenic mechanism of DSH is still unknown. ADAR1 expressed ubiquitously in mammalian tissue, but only a few of its target genes are identified .…”

mentioning

confidence: 99%

Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria

Yuan

Zhao

et al. 2016

Int J Dermatology

View full text Add to dashboard Cite

CorrespondenceNovel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria Dyschromatosis symmetrica hereditaria (DSH; MIM 127400) is an autosomal dominant genodermatosis characterized by intermingled hyper-and hypopigmented macules on the dorsal aspect of the distal extremities. The pathogenic mutations of DSH have been identified in adenosine deaminase acting on RNA 1 (ADAR1) gene. 1 In this study, we have investigated two families from Liaoning, China, with typical DSH features and explored the effect of mutations.Family 1, a four-generation pedigree containing eight affected and 19 unaffected individuals, was consistent with an autosomal dominant mode of inheritance (Fig. 1a). The proband, a 27-year-old man, had a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of his extremities, face, knees, and back (Fig. 1b). Other affected family members only had similar macules on their extremities and face. In family 2, a sporadic case has been identified. The patient has developed small freckle-like pigmented macules on the face and typical symptoms on the dorsal extremities (Fig. 2a). Figure 1 Mutations of DSH family 1. (a) Four-generation family, which included eight patients. (b)Proband has a mixture of hyperpigmented and hypopigmented macules on his body and was asymptomatic. (c) Novel A?T splice mutation (IVS12-2 A>T), which was discovered in all patients from the family. (d) As confirmed by RT-PCR, the abnormally spliced RNA lacks 183 nucleotides in the mature RNA. On an electrophoresis gel, the normal splicing produced a single 670 bp band, while the abnormal splicing has produced two bands (670 bp and 487 bp, respectively). (e) Sequencing of RT-PCR product has confirmed that the brachytmema sequence lacks exon 12

show abstract

A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review

Ge,

Zhang,

Chen

et al. 2024

CCID

View full text Add to dashboard Cite

Background Dyschromatosis symmetrica hereditaria (DSH) is a rare genetic skin condition characterized by pigmented macules on the hands, feet, and sometimes the face. The ADAR1 gene is responsible for this autosomal dominant disorder. Objective This study aimed to analyze a three-generation Chinese family with DSH, identify a novel ADAR1 gene mutation, and conduct a comprehensive literature review of Chinese DSH families to enhance understanding of the genetic basis and clinical manifestations. Methods Clinical reports, mutation analysis, and literature reviews were conducted. A literature search was performed using PubMed. Results A novel heterozygous nonsense mutation, c.763C>T (p.Q255X), in the ADAR1 gene was identified in the proband and five other affected individuals. Literature review findings revealed prevalent mutation sites and clinical data in Chinese DSH families over the past two decades. Limitations The number of databases searched was limited, and the treatment outcomes for patients were not deemed satisfactory. Conclusion This study provides valuable insights into the genetic basis and clinical features of DSH in Chinese families, shedding light on prevalent mutation sites and clinical data. Further research is needed to explore the relationship between gene mutations and clinical phenotypes and advance therapeutic interventions for DSH.

show abstract

Mutations in the ADAR1 gene in 2 Chinese families with dyschromatosis symmetrica hereditaria

Cited by 3 publications

References 25 publications

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria

A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review

Contact Info

Product

Resources

About