Waardenburg syndrome type 2

Shaw, Subhash Chandra; Neema, Shekhar; Devgan, Amit; Maggon, Rakesh

doi:10.1016/j.mjafi.2017.05.009

Cited by 3 publications

(2 citation statements)

References 7 publications

(8 reference statements)

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“…All four types of WS are present with hearing loss and changes in pigmentation of the hair, skin, and eyes [ 1 , 2 ]. The clinical features are similar between type 1 and type 2, but the deafness occurs more often in patients with type 2, and people with type 1 almost always have widely spaced eyes [ 14 , 15 ]. Tietz syndrome also presented similar phenotypes to WS type 2 [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

Liu

et al. 2021

BioMed Research International

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Waardenburg syndrome (WS) is a group of rare genetic disorders characterized by hearing loss, changes in coloring of hair, skin, and eyes, and alterations in the shape of the face. Tietz syndrome is another rare disorder which presented similar phenotypes to WS. Patients with Tietz/Waardenburg syndrome often present with pale blue eyes, albino skin, and distinctive hair coloring, such as a patch of white hair or hair that prematurely turns gray. At present, more than six candidate genes are responsible for four types of Waardenburg syndrome and Tietz syndrome. This study is aimed at identifying the pathogenic gene variants in a three-generation Han Chinese family with hearing loss, blue-gray iris, albino skin, and white hair. In order to discover the molecular genetic lesion underlying the disease phenotype, whole exome sequencing in the proband, with Tietz/Waardenburg syndrome phenotypes, of a Han Chinese family from HeBei, China, was conducted. A novel heterozygous c.650G>C/p.Arg217Thr variant in melanocyte inducing transcription factor (MITF) was identified. Sanger sequencing further validated that this mutation existed in three affected individuals and absent in healthy family members. Bioinformatics analysis predicted that this mutation was deleterious. Our study further identified the genetic lesion of the family. Simultaneously, our study may also contribute to genetic counseling, embryonic screening of in vitro fertilized embryos, and prenatal genetic diagnosis of patients with Tietz/Waardenburg syndrome, especially for the proband, unmarried and unpregnant women, to reduce familial transmission in this Han Chinese family.

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Section: Discussionmentioning

confidence: 99%

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

Liu

et al. 2021

BioMed Research International

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“…Moreover, observations predicted that most severe forms of the WS are mostly caused by mutations in the last coding exon of SOX10. It has been proposed that this occurs when the mutant mRNAs escape the nonsense-mediated mRNA decay (NMD) pathway [21][22][23][24].…”

Section: Introductionmentioning

confidence: 99%

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene

et al. 2021

Bioscience Reports

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Waardenburg syndrome (WS) is a congenital hereditary disease, attributed to the most common symptoms of sensorineural deafness and iris hypopigmentation. It is also known as the hearing-pigmentation deficient syndrome. Mutations on SOXl0 gene often lead to congenital deafness and has been shown to play an important role in the pathogenesis of WS. We investigated one family of five members, with four patients exhibiting the classic form of WS2, whose DNA samples were analyzed by the technique of Whole-exome sequencing (WES). From analysis of WES data, we found that both the mother and all three children in this family have a heterozygous mutation on the SOX10 gene. The mutation was c.298_300delinsGG in exon 2 of SOX10 (NM_006941), which leads to a frameshift of nine nucleotides, hence the amino acids (p. S100Rfs*9) is altered and the protein translation may be terminated prematurely. Further flow cytometry confirmed significant downregulation of SOX10 protein, which indicated the the SOX10 gene mutation was responsible for the pathogenesis of WS2 patients. In addition, we speculated that some other mutated genes might be related to disease phenotype in this family, which might also participate in promoting the progression of WS2.

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