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

BMC Medical Genomics

Research

Jinghui Zou¹  Juan Cao²  Biying Lou³  Yingwen Liu⁴  Danyan Zhuang⁴  Haibo Li⁴  Yuxin Zhang⁴  Lulu Yan⁴ 

[1] Department of Obstetrics, Ningbo Medical Center Lihuili Hospital, 315000, Ningbo, Zhejiang, China;Department of Obstetrics, Ningbo Women and Children’s Hospital, 315000, Ningbo, Zhejiang, China;Ningbo University School of Medicine, 315000, Ningbo, Zhejiang, China;The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children’s Hospital, 315000, Ningbo, Zhejiang, China;

关键词: RLSDF;    PKDCC;    Skeletal dysplasia;    Whole exome sequencing;   

DOI  :  10.1186/s12920-023-01631-7

 received in 2023-04-21, accepted in 2023-08-11,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundRhizomelic 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.MethodsGenomic 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.ResultsTrio-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.ConclusionsWe 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.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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