Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review. Issue 8 (22nd July 2021)

• Record Type: Journal Article
• Authors: Liu, Jing; Liu, Qin; Yang, Shuting; Ma, Na; Pang, Jialun; Peng, Ying; Xi, Hui; Jia, Zhengjun; Luo, Yingchun; Jiang, Meiping; Teng, Yanling; Yu, Wenxian; Li, Zhuo; Wang, Hua
• Is Part Of: Molecular genetics & genomic medicine. Volume 9:Issue 8(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-07-22
• Subjects: GPC3 -- prenatal diagnosis -- Simpson–Golabi–Behmel syndrome 1 -- SNP array -- ultrasound; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1750
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Background: Simpson–Golabi–Behmel syndrome type 1 (SGBS1) is a rare X‐linked recessive disorder characterized by pre‐ and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally. Methods: A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Single nucleotide polymorphism array (SNP array) was performed in the fetus, and the result was validated with multiplex ligation‐dependent probe amplification (MLPA) and real‐time quantitative PCR (qPCR). Results: The prenatal sonographic presented with increased nuchal translucency at 13 gestational weeks, and later at 21 weeks with cleft lip and palate, heart defect, increased amniotic fluid index and over growth. A de novo 370Kb‐deletion covering the 5′‐UTR and exon 1 of GPC3 gene was detected in the fetus by SNP array, which was subsequently confirmed by MLPA and qPCR. Conclusion: The de novo 370Kb hemizygous deletion of 5′‐UTR and exon 1 of GPC3 results in the SGBS1 of this Chinese family. Combination of ultrasound and genetics tests helped us effectively to diagnose the prenatal cases of SGBS1. Our findings also enlarge the spectrum of mutations in GPC3 gene. Abstract : In the present report, distinctive prenatal sonographic findings from 13 gestational weeks (such as increased nuchal translucency, cleft lip and palate, heart defect and over growth) led to molecular diagnosis. Single Nucleotide Polymorphism Array (SNP array) revealed a de novo 370Kb‐deletion covering the 5′‐UTR and exon 1 of GPC3 gene, which was confirmed by multiplex ligation‐dependent probe amplification (MLPA) and real‐time quantitative polymerase chain reaction (qPCR). Combination of ultrasound and genetics tests helped us effectively to diagnose the prenatal cases of SGBS1 in the mainland of China.