A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred

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A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred Publisher

Jalilian N¹ ; Tabatabaiefar MA^{2, 3} ; Bahrami T⁴ ; Karbasi G⁶ ; Bahramian MH⁷ ; Salimpoor A⁷ ; Nooridaloii MR⁵

Source: Molecular Syndromology Published:2017

Abstract

Waardenburg syndrome (WS) is a rare genetic disorder characterized by abnormal pigmentation of the hair, skin, and iris as well as sensorineural hearing loss. WS is subdivided into 4 major types (WS1-4), where WS2 is characterized by the absence of dystopia canthorum. This study was launched to investigate clinical and molecular characteristics of WS in an extended Iranian WS2 family. A comprehensive clinical investigation was performed. Peripheral blood samples were collected and genomic DNA was extracted. Affected members of the family were studied for possible mutations within the SOX10, MITF, and SNAI2 genes. Six WS2 individuals affected from a large Iranian WS2 kindred were enrolled. All affected members carried the novel substitution c.877C>T at exon 9 in the MITF gene, which resulted in p.Arg293∗ at the protein level. None of the healthy members and also of 50 ethnically matched controls had this variant. In addition, a spectrum of unique ocular findings, including nystagmus, chorioretinal degeneration, optic disc hypoplasia, astigmatism, and myopia, was segregated with the mutant allele in the pedigree. Our data provide insight into the genotypic and phenotypic spectrum of WS2 in an Iranian family and could further expand the spectrum of MITF mutations and have implications for genetic counseling on WS in Iran. © 2017 S. Karger AG, Basel. All rights reserved.

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Style	Citing Format
MLA	Jalilian N, et al.. "A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred." Molecular Syndromology, vol. 8, no. 4, 2017, pp. 195-200.
APA	Jalilian N, Tabatabaiefar MA, Bahrami T, Karbasi G, Bahramian MH, Salimpoor A, Nooridaloii MR (2017). A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred. Molecular Syndromology, 8(4), 195-200.
Chicago	Jalilian N, Tabatabaiefar MA, Bahrami T, Karbasi G, Bahramian MH, Salimpoor A, Nooridaloii MR. "A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred." Molecular Syndromology 8, no. 4 (2017): 195-200.
Harvard	Jalilian N et al. (2017) 'A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred', Molecular Syndromology, 8(4), pp. 195-200.
Vancouver	Jalilian N, Tabatabaiefar MA, Bahrami T, Karbasi G, Bahramian MH, Salimpoor A, et al.. A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred. Molecular Syndromology. 2017;8(4):195-200.
BibTex	@article{ author = {Jalilian N and Tabatabaiefar MA and Bahrami T and Karbasi G and Bahramian MH and Salimpoor A and Nooridaloii MR}, title = {A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred}, journal = {Molecular Syndromology}, volume = {8}, number = {4}, pages = {195-200}, year = {2017} }
RIS	TY - JOUR AU - Jalilian N AU - Tabatabaiefar MA AU - Bahrami T AU - Karbasi G AU - Bahramian MH AU - Salimpoor A AU - Nooridaloii MR TI - A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred JO - Molecular Syndromology VL - 8 IS - 4 SP - 195 EP - 200 PY - 2017 ER -

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