Accession	SAMC1845526
Accession in Other Database	GSA-Human: HRS263177
Sample name	2-2
Title	2-2
Sample type	Human sample
Organism	Homo sapiens
Description	mother
Attributes	*Only part of the sample information is displayed on this page because the related dataset HRA001055 has not yet been registered in the Human Genetic Resource Management Platform of MOST.
Release date	2023-07-19
BioProject Accession	PRJCA005815
Submitter	Luming Wang (wangluming1988@zjxu.edu.cn)
Organization	Jiaxing Maternity and Child Health Care Hospital
Submission date	2023-06-18

Sample Data

Resource name	Description
GSA-Human (1)	-
HRA001055 (Open Access)	One non-consanguineous Chinese family with ARNSHL was included in this study. Accordingly, clinical evaluations and genetic analysis were performed in this family. Genetic analysis mainly included NGS detection, Sanger sequencing confirmation and bioinformatics analysis. We identified three compound heterozygous mutations in MYO15A that cause deafness, including two novel mutations, c.6804G>A (p.M2268I) and c.6188_6190delinsGTCA (p.F2063Cfs*60). Multiple bioinformatics analysis indicated that they seem to be harmful, which was also consistent with the clinical phenotype of deafness.

Resource name

Description

GSA-Human (1)

HRA001055 (Open Access)

One non-consanguineous Chinese family with ARNSHL was included in this study. Accordingly, clinical evaluations and genetic analysis were performed in this family. Genetic analysis mainly included NGS detection, Sanger sequencing confirmation and bioinformatics analysis. We identified three compound heterozygous mutations in MYO15A that cause deafness, including two novel mutations, c.6804G>A (p.M2268I) and c.6188_6190delinsGTCA (p.F2063Cfs*60). Multiple bioinformatics analysis indicated that they seem to be harmful, which was also consistent with the clinical phenotype of deafness.

Related samples

Samples (0)