三位ALG13 c.320A>G变异体男性患者的表型相似性:基因型与表型的可能相关性

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY
Rebecca Finnegan, Mary O'Regan, Máire White, Gianpiero L Cavalleri, Norman Delanty, Katherine A Benson, Marie T Greally
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引用次数: 0

摘要

背景:先天性糖基化紊乱(CDG)是一组神经代谢疾病,由蛋白质和/或脂质的糖基化遗传缺陷引起。多种致病基因导致 CDG-1 综合征患者的表型各不相同,其中大多数为常染色体隐性遗传,但也有 X 连锁遗传的报道。天冬酰胺连接糖基化 13 同源物(ALG13)基因的致病变异与发育性癫痫脑病(DEE)36 的病因学有关(OMIM:*300776, DEE36)。NM_001099922.3:c.320A>G;p.(Asn107Ser)变异是 ALG13 基因中最常见的致病变异,迄今已有 59 名女性和 2 名男性报告了该变异:我们报告了一名患有 ALG13 新发半杂合子变异:c.320A>G; p. (Asn107Ser)的男性患者,其表型与之前报告的两名患有相同变异的男性患者相似:这三名男性患者都有新突变、婴儿痉挛、DEE、耐药性癫痫、智力障碍、畸形、反复感染、骨骼异常、脑部异常和运动障碍:这一表型在患有其他 ALG13 致病变异的男性患者中未见报道:结论:ALG13 c.320A>G变异的三名男性患者的表型相似,表明基因型与表型之间可能存在关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.

Background: Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG-1 syndromes, most of which are inherited as autosomal recessive traits, although X-linked inheritance has also been reported. Pathogenic variants in the asparagine-linked glycosylation 13 homolog (ALG13) gene have been implicated in the aetiology of developmental and epileptic encephalopathy (DEE) 36 (OMIM:*300776, DEE36). The NM_001099922.3:c.320A>G; p.(Asn107Ser) variant is the most frequently described pathogenic variant in ALG13, with 59 females and 2 males with this variant reported to date.

Methods: We report on a male with a de novo, hemizygous variant in ALG13: c.320A>G; p.(Asn107Ser), whose phenotype resembles that of two previously reported males with the same variant.

Results: All three males have a de novo mutation, infantile spasms, DEE, drug-resistant epilepsy, intellectual disability, dysmorphic findings, recurrent infections, skeletal anomalies, brain abnormalities and a movement disorder: a phenotype not consistently reported in males with other pathogenic variants in ALG13.

Conclusion: The similarity of phenotype in the three males with the c.320A>G variant in ALG13, suggests a possible genotype-phenotype correlation.

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来源期刊
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.20
自引率
0.00%
发文量
241
审稿时长
14 weeks
期刊介绍: Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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