Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.

ABSTRACT:

Background

Congenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defects in the synthesis and processing of glycoproteins. COG6-CDG is a kind of disorder caused by conserved oligomeric golgi complex 6 (COG6) deficiency. To date, only 19 patients with COG6-CDG have been reported.

Methods

We report a girl in a Chinese family with developmental delay, growth retardation, microcephaly, abnormal liver function, and hypohidrosis. Trio whole-exome sequencing was performed for this patient and her parents, and the variants identified were validated by Sanger sequencing. Prenatal diagnosis was done for this family during a subsequent pregnancy. The literature review on these patients was performed by reviewing articles published in E

SUBMITTER: Zhao P 

PROVIDER: S-EPMC8457690 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature