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Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome
Human Heredity ( IF 1.8 ) Pub Date : 2021-06-30 , DOI: 10.1159/000516854
Qin Zhang 1 , Tiantian Qin 1 , Wenmu Hu 1 , Muhammad Usman Janjua 1 , Ping Jin 1
Affiliation  

Objectives: Nonsyndromic hearing loss (NSHL) is the most frequent type of hereditary hearing impairment. Here, we explored the underlying genetic cause of NSHL in a three-generation family using whole-exome sequencing. The proband had concomitant NSHL and rare 48,XXYY Klinefelter syndrome. Material and Methods: Genomic DNA was extracted from the peripheral blood of the proband and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the variants was analyzed using bioinformatics software. Results: The proband was digenic heterozygous for p.V37I in the GJB2 gene and p.L347I in the MYO7A gene. The proband’s mother had normal hearing and did not have any variant. The proband’s father and uncle both had NSHL and were compound for the GJB2 p.V37I and MYO7A p.L347I variants, thus indicating a possible GJB2/MYO7A digenic inheritance of NSHL. 48,XXYY Klinefelter syndrome was discovered in the proband after the karyotype analysis, while his parents both had normal karyotypes. Conclusions: Our findings reported a putative GJB2/MYO7A digenic inheritance form of hearing loss, expanding the genotype and phenotype spectrum of NSHL. In addition, this is the first report of concomitant NSHL and 48,XXYY syndrome.
Hum Hered


中文翻译:

在 48,XXYY Klinefelter 综合征患者中检测到听力损失的假定 Digenic GJB2/MYO7A 遗传

目的:非综合征性听力损失 (NSHL) 是最常见的遗传性听力障碍类型。在这里,我们使用全外显子组测序探索了三代家庭中 NSHL 的潜在遗传原因。先证者同时伴有 NSHL 和罕见的 48,XXYY Klinefelter 综合征。材料与方法:从先证者及其家属的外周血中提取基因组DNA。对全外显子组测序过滤的致病变异进行桑格测序和系谱验证。使用生物信息学软件分析变体的功能。结果:先证者对GJB2基因中的p.V37I和 MYO7A 中的p.L347I基因杂合的基因。先证者的母亲听力正常,没有任何变异。先证者的父亲和叔叔都患有NSHL,并且是GJB2 p.V37I 和MYO7A p.L347I 变异的复合物,因此表明NSHL可能存在GJB2/MYO7A 双基因遗传。48,XXYY Klinefelter综合征先证者经核型分析后发现,而其父母均为正常核型。结论:我们的研究结果报告了一种推定的GJB2/MYO7A 双基因遗传形式的听力损失,扩大了NSHL的基因型和表型谱。此外,这是首次报告同时出现 NSHL 和 48,XXYY 综合征。
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更新日期:2021-06-30
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