IDENTIFICATION OF NOVEL PTPRQ AND MYO1A MUTATIONS IN AN IRANIAN PEDIGREE WITH AUTOSOMAL RECESSIVE HEARING LOSS

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TALEBI FARAH; GHANBARI MARDASI FARIDEH; MOHAMMADI ASL JAVAD; TIZNO SAEED; NAJAFVAND ZADEH MARZIYE

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Journal: Cell Journal (Yakhteh) Year:2018 | Volume:20 | Issue:1 Page(s): 127-131

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Title

IDENTIFICATION OF NOVEL PTPRQ AND MYO1A MUTATIONS IN AN IRANIAN PEDIGREE WITH AUTOSOMAL RECESSIVE HEARING LOSS

Author(s)

Keywords

HEARING LOSS

MYO1A

NOVEL VARIANT

PTPRQ

Abstract

Autosomal recessive non-syndromic HEARING LOSS (ARNSHL) is defined as a genetically heterogeneous disorder. The aim of the present study was to screen for pathogenic variants in an Iranian pedigree with ARNSHL. Next-generation targeted sequencing of 127 deafness genes in the proband detected two NOVEL VARIANTs, a homozygous missense variant in PTPRQ (c.2599 T>C, p.Ser867Pro and a heterozygous missense variant in MYO1A (c.2804 T>C, p.Ile935Thr), both of which were absent in unaffected sibs and two hundred unaffected controls. Our results suggest that the homozygous PTPRQ variant maybe the pathogenic variant for ARNSHL due to the recessive nature of the disorder. Nevertheless, the heterozygousMYO1A may also be involved in this disorder due to the multigenic pattern of ARNSHL. Our data extend the mutation spectrum of PTPRQ and MYO1A, and have important implications for genetic counseling in unaffected sibs of this family. In addition, PTPRQ and MYO1A pathogenic variants have not to date been reported in the Iranian population.

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APA: Copy

TALEBI, FARAH, GHANBARI MARDASI, FARIDEH, MOHAMMADI ASL, JAVAD, TIZNO, SAEED, & NAJAFVAND ZADEH, MARZIYE. (2018). IDENTIFICATION OF NOVEL PTPRQ AND MYO1A MUTATIONS IN AN IRANIAN PEDIGREE WITH AUTOSOMAL RECESSIVE HEARING LOSS. CELL JOURNAL (YAKHTEH), 20(1), 127-131. SID. https://sid.ir/paper/705254/en

Vancouver: Copy

TALEBI FARAH, GHANBARI MARDASI FARIDEH, MOHAMMADI ASL JAVAD, TIZNO SAEED, NAJAFVAND ZADEH MARZIYE. IDENTIFICATION OF NOVEL PTPRQ AND MYO1A MUTATIONS IN AN IRANIAN PEDIGREE WITH AUTOSOMAL RECESSIVE HEARING LOSS. CELL JOURNAL (YAKHTEH)[Internet]. 2018;20(1):127-131. Available from: https://sid.ir/paper/705254/en

IEEE: Copy

FARAH TALEBI, FARIDEH GHANBARI MARDASI, JAVAD MOHAMMADI ASL, SAEED TIZNO, and MARZIYE NAJAFVAND ZADEH, “IDENTIFICATION OF NOVEL PTPRQ AND MYO1A MUTATIONS IN AN IRANIAN PEDIGREE WITH AUTOSOMAL RECESSIVE HEARING LOSS,” CELL JOURNAL (YAKHTEH), vol. 20, no. 1, pp. 127–131, 2018, [Online]. Available: https://sid.ir/paper/705254/en

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