巴基斯坦常染色体隐性智力残疾家庭SLC6A17双等位变异

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Malik Ali Asghar, Rukhsana Nazir, Saima Siddiqi, Noor Ul Ain
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引用次数: 0

摘要

常染色体隐性智力残疾影响1%-33%的普通人群,在近亲婚姻普遍的国家是一个主要问题。精神发育迟滞常染色体隐性遗传48 (MRT 48) (OMIM 616269)是一种以进行性震颤、语言障碍和行为问题为特征的隐性综合征疾病。在目前的研究中,我们强调了一个家庭与mrt48的情况。索引患者是健康的近亲父母的第二胎,有智力残疾史。对患者进行全外显子组测序,发现纯合子C . 163t . > . C;p。SLC6A17基因中的Tyr565His突变。该变异在具有该表型的大家庭中分离。本研究拓宽了SLC6A17变异的基因型谱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Biallelic Variant in SLC6A17 in a Pakistani Family With Autosomal Recessive Intellectual Disability.

Autosomal recessive intellectual disability affects 1%-33% of the general population and is a major concern in countries where consanguineous marriages are common. Mental retardation autosomal recessive 48 (MRT 48) (OMIM 616269) is a recessive syndromic disorder characterized by progressive tremors, speech impairment, and behavioral problems. In the present study, we highlight a family with a case of MRT 48. The index patient was second born to healthy consanguineous parents with a history of intellectual disability. Whole exome sequencing of the patient was performed, which revealed a homozygous c.1693T>C;p.(Tyr565His) variant in the SLC6A17 gene. The variant segregated in the extended family with the phenotype. This study broadens the genotypic spectrum of SLC6A17 variants.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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