Clinical characteristics and genetic analysis of a fetus with Melnick-Needles syndrome due to variant of FLNA gene.
10.3760/cma.j.cn511374-20221013-00684
- Author:
Jinghui ZOU
1
;
Yisheng ZHANG
;
Yan LIU
;
Aijiao XUE
;
Lulu YAN
;
Haibo LI
Author Information
1. Department of Obstetrics, Ningbo Medical Center Lihuili Hospital, Ningbo, Zhejiang 315046, China. lihaibo-775@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Female;
Humans;
Pregnancy;
Abnormalities, Multiple/genetics*;
Fetal Growth Retardation;
Fetus;
Filamins/genetics*;
Genetic Counseling;
Mutation;
Osteochondrodysplasias
- From:
Chinese Journal of Medical Genetics
2023;40(5):582-587
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of a fetus with Melnick-Needles syndrome (MNS).
METHODS:A fetus with MNS diagnosed at Ningbo Women and Children's Hospital in November 2020 was selected as the study subject. Clinical data was collected. Pathogenic variant was screened by using trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing.
RESULTS:Prenatal ultrasonography of the fetus had shown multiple anomalies including intrauterine growth retardation, bilateral femur curvature, omphalocele, single umbilical artery, and oligohydramnios. Trio-WES revealed that the fetus has harbored hemizygous c.3562G>A (p.A1188T) missense variant of the FLNA gene. Sanger sequencing confirmed that the variant was maternally derived, whilst its father was of a wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+PM2_Supporting+PP3+PP4).
CONCLUSION:The hemizygous c.3562G>A (p.A1188T) variant of the FLNA gene probably underlay the structural abnormalities in this fetus. Genetic testing can facilitate accurate diagnosis of MNS and provide a basis for genetic counseling for this family.
