Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China

Autor: Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang, Haibo Li
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)
Druh dokumentu: article
ISSN: 1755-8794
DOI: 10.1186/s12920-023-01631-7
Popis: Abstract Background Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by protein kinase domain containing, cytoplasmic(PKDCC)gene variants. In this study, we describe the clinical features and potential RLSDF molecular etiology in a fetus from China. Methods Genomic DNA (gDNA) extracted from the fetal muscle tissue and parents’ peripheral blood was subjected to chromosomal microarray analysis (CMA) and trio-based whole exome sequencing (Trio-WES). The candidate pathogenic variants were verified by using Sanger sequencing. Results Trio-WES identified two compound heterozygous variants in PKDCC, c.346delC (p.Pro117Argfs*113) and c.994G > T (p.Glu332Ter), inherited from the father and mother, respectively. Both variants are classified as pathogenic according to American College of Medical Genetics and Genomics guidelines. Conclusions We reported the first prenatal case of RLSDF caused by PKDCC in the Chinese population. Our findings extended the variation spectrum of PKDCC and emphasized the necessity of WES for the early diagnosis of skeletal dysplasia and other ultrasound structural abnormalities in fetuses.
Databáze: Directory of Open Access Journals
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