扩展 NGLY1 缺乏表型：一例非典型患者的病例报告。

Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.

机构信息

Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Anthropology, The Ohio State University, Columbus, OH, USA.

Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.

出版信息

Eur J Med Genet. 2022 Aug;65(8):104558. doi: 10.1016/j.ejmg.2022.104558. Epub 2022 Jun 30.

DOI:10.1016/j.ejmg.2022.104558

PMID:35779835

Abstract

NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and has a much milder intellectual disability than had been previously reported, expanding the phenotypic spectrum.

摘要

NGLY1 缺陷是一种罕见的先天性糖基化缺陷疾病，具有独特的症状组合，包括低或无泪、运动障碍、癫痫和严重智力残疾（OMIM #615273）。在这里，我们报告了一例 NGLY1 缺陷患者，其临床表现缺乏许多与该疾病相关的特征，且智力残疾程度比之前报道的要轻得多，扩展了表型谱。