Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorder
Objective To investigate the clinical features of 2 deafness patients from a family with MYH9 disorder, and search the candidate genes related to deafness for mutation sites in this family. Methods Their detailed medical histories were surveyed. Physical examination, routine blood test, biochemical...
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Editorial Office of Journal of Third Military Medical University
2019-06-01
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doaj-30ea44baac3f4aa8b7775f105f188cb92021-06-15T01:56:28ZzhoEditorial Office of Journal of Third Military Medical UniversityDi-san junyi daxue xuebao1000-54042019-06-0141111083108910.16016/j.1000-5404.201812098Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorderCHEN Yinyi0ZHANG Ying'ai1GAO Xin2Central Laboratory, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Haikou, Hainan Province, 570208, ChinaCentral Laboratory, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Haikou, Hainan Province, 570208, ChinaCentral Laboratory, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Haikou, Hainan Province, 570208, ChinaObjective To investigate the clinical features of 2 deafness patients from a family with MYH9 disorder, and search the candidate genes related to deafness for mutation sites in this family. Methods Their detailed medical histories were surveyed. Physical examination, routine blood test, biochemical test, audiological test, and Wright-Giemsa staining and immunofluorescence assay of MYH9 protein in the peripheral blood smears were performed. Genomic DNA was extracted from the peripheral blood samples of 2 patients. More than 100 known genes associated with deafness were sequenced by whole exome sequencing, and the results were confirmed by Sanger sequencing. Results All affected members in this family had the typical triad of giant platelets, thrombocytopenia and neutrophil inclusion bodies, and the pedigree analysis revealed autosomal dominant inheritance. In this study, the 2 deaf patients also suffered from anemia, hyperlipidemia and elevated levels of transaminase. The features of their deafness were postlingual deafness, late-onset and progressive hearing loss, and medium and high frequency dominant sensorineural hearing loss. Whole exome sequencing indicated that the pathogenic mutation site of MYH9 gene was c.G4546C:p.V1516L, and no other pathogenic mutations of known genes involved in deafness were found. Conclusion The deafness phenotype of the 2 patients in this family may be related to the MYH9 pathogenic mutation p.V1516L.http://aammt.tmmu.edu.cn/Upload/rhtml/201812098.htmmyh9 disorderdeafnesssensorineuralwhole exome sequencinggene mutation |
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zho |
format |
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DOAJ |
author |
CHEN Yinyi ZHANG Ying'ai GAO Xin |
spellingShingle |
CHEN Yinyi ZHANG Ying'ai GAO Xin Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorder Di-san junyi daxue xuebao myh9 disorder deafness sensorineural whole exome sequencing gene mutation |
author_facet |
CHEN Yinyi ZHANG Ying'ai GAO Xin |
author_sort |
CHEN Yinyi |
title |
Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorder |
title_short |
Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorder |
title_full |
Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorder |
title_fullStr |
Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorder |
title_full_unstemmed |
Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorder |
title_sort |
clinical features and analysis of deafness genes in 2 patients from a chinese family with myh9 disorder |
publisher |
Editorial Office of Journal of Third Military Medical University |
series |
Di-san junyi daxue xuebao |
issn |
1000-5404 |
publishDate |
2019-06-01 |
description |
Objective To investigate the clinical features of 2 deafness patients from a family with MYH9 disorder, and search the candidate genes related to deafness for mutation sites in this family. Methods Their detailed medical histories were surveyed. Physical examination, routine blood test, biochemical test, audiological test, and Wright-Giemsa staining and immunofluorescence assay of MYH9 protein in the peripheral blood smears were performed. Genomic DNA was extracted from the peripheral blood samples of 2 patients. More than 100 known genes associated with deafness were sequenced by whole exome sequencing, and the results were confirmed by Sanger sequencing. Results All affected members in this family had the typical triad of giant platelets, thrombocytopenia and neutrophil inclusion bodies, and the pedigree analysis revealed autosomal dominant inheritance. In this study, the 2 deaf patients also suffered from anemia, hyperlipidemia and elevated levels of transaminase. The features of their deafness were postlingual deafness, late-onset and progressive hearing loss, and medium and high frequency dominant sensorineural hearing loss. Whole exome sequencing indicated that the pathogenic mutation site of MYH9 gene was c.G4546C:p.V1516L, and no other pathogenic mutations of known genes involved in deafness were found. Conclusion The deafness phenotype of the 2 patients in this family may be related to the MYH9 pathogenic mutation p.V1516L. |
topic |
myh9 disorder deafness sensorineural whole exome sequencing gene mutation |
url |
http://aammt.tmmu.edu.cn/Upload/rhtml/201812098.htm |
work_keys_str_mv |
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