PIGH中的纯合变体p（Arg163Trp）导致糖基磷脂酰肌醇生物合成缺陷，伴有癫痫性脑病和髓鞘形成延迟。

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2022-10-01 Epub Date: 2022-04-19 DOI:10.1097/MCD.0000000000000423

Michelle C do Rosario, Parneet Kaur, Katta Mohan Girisha, Stephanie Bielas, Anju Shukla

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Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.

Introduction PIGH encoded as phosphatidylinositol N-acetylglucosaminyltransferase subunit H helps catalyze the first step of glycosylphosphatidylinositol (GPI) biosynthesis by transferring N-acetylglucosamine from UDP-N-acetylglucosamine to an inositol phospholipid acceptor. Pathogenic variants in PIGH have been reported to cause GPI biosynthesis defect 17 (MIM# 618010). To date, a total of seven individuals from five unrelated families with GPI biosynthesis defect 17 (MIM# 618010) have been reported (Pagnamenta and Murakami, 2018; Nguyen et al., 2018; Tremblay-Laganière et al., 2021). In this report, we describe an additional proband with early-onset recurrent seizures, postictal regression of attained milestones, hypotonia and delayed myelination on neuroimaging of brain at 1 year of age, and an underlying biallelic variant in PIGH. Additionally, we review and compare the phenotypic and genotypic findings of all individuals with GPI biosynthesis defect 17.

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.