Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Neural Plasticity
Xiao-Hui WangWei-Jia Kong

Abstract

Congenital deafness is one of the most common causes of disability in humans, and more than half of cases are caused by genetic factors. Mutations of the MYO15A gene are the third most common cause of hereditary hearing loss. Using next-generation sequencing combined with auditory tests, two novel compound heterozygous variants c.2802_2812del/c.5681T>C and c.5681T>C/c.6340G>A in the MYO15A gene were identified in probands from two irrelevant Chinese families. Auditory phenotypes of the probands are consistent with the previously reported for recessive variants in the MYO15A gene. The two novel variants, c.2802_2812del and c.5681T>C, were identified as deleterious mutations by bioinformatics analysis. Our findings extend the MYO15A gene mutation spectrum and provide more information for rapid and precise molecular diagnosis of congenital deafness.

References

Sep 3, 1999·Journal of Muscle Research and Cell Motility·M J Redowicz
Jul 19, 2002·The Journal of Comparative Neurology·Ralph H HolmeKaren P Steel
Nov 12, 2003·Proceedings of the National Academy of Sciences of the United States of America·Inna A BelyantsevaThomas B Friedman
Mar 9, 2005·Lancet·Richard J H SmithKarl R White
May 19, 2006·The New England Journal of Medicine·Cynthia C Morton, Walter E Nance
Jul 21, 2010·Genetic Testing and Molecular Biomarkers·F Basak CengizMustafa Tekin
Jun 2, 2012·Frontiers in Bioscience (Landmark Edition)·Duygu Duman, Mustafa Tekin
Mar 22, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Raye L AlfordUNKNOWN Professional Practice and Guidelines Committee
Aug 1, 2015·Molecular Biology of the Cell·Peter-G Barr-Gillespie
Jan 27, 2016·International Journal of Pediatric Otorhinolaryngology·Wei LiChunfu Dai
Dec 20, 2017·Frontiers in Molecular Neuroscience·Yanfei WangZhigang Xu
Apr 20, 2019·Science Advances·Yan LiuGuisheng Zhong
Aug 21, 2019·Frontiers in Molecular Neuroscience·Shasha ZhangRenjie Chai
Jan 12, 2021·The Journal of Biological Chemistry·Fangfang JiangJonathan E Bird
Apr 9, 2021·Frontiers in Pediatrics·Ryan BelcherChristopher Wootten

❮ Previous
Next ❯

Software Mentioned

Sequencing Analysis
BWA
- MEM
PROVEAN
Burrows Aligner (
PolyPhen
Clustal Omega

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.