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Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses

OBJECTIVE: To diagnose and explore the genetic aetiology of Simpson–Golabi–Behmel syndrome type 1 (SGBS1) in two male fetuses. METHODS: Prenatal ultrasound scans and further genetic analysis using karyotype analysis, chromosomal microarray analysis, whole exome sequencing (WES) and Sanger sequencing...

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Autores principales: Xiang, Jingjing, Zhang, Qin, Song, Xiaoyan, Liu, Yinghua, Li, Haibo, Li, Hong, Wang, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140209/
https://www.ncbi.nlm.nih.gov/pubmed/31304847
http://dx.doi.org/10.1177/0300060519859752
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author Xiang, Jingjing
Zhang, Qin
Song, Xiaoyan
Liu, Yinghua
Li, Haibo
Li, Hong
Wang, Ting
author_facet Xiang, Jingjing
Zhang, Qin
Song, Xiaoyan
Liu, Yinghua
Li, Haibo
Li, Hong
Wang, Ting
author_sort Xiang, Jingjing
collection PubMed
description OBJECTIVE: To diagnose and explore the genetic aetiology of Simpson–Golabi–Behmel syndrome type 1 (SGBS1) in two male fetuses. METHODS: Prenatal ultrasound scans and further genetic analysis using karyotype analysis, chromosomal microarray analysis, whole exome sequencing (WES) and Sanger sequencing were conducted. RESULTS: Prenatal ultrasound scans of two fetuses showed multiple congenital anomalies and hydramnios. Subsequent to termination of the pregnancies, a novel nonsense variant (c.892G>T, p.E298*) in the glypican 3 (GPC3) gene of the two fetuses was identified by WES and further confirmed by Sanger sequencing. The two fetuses were diagnosed with SGBS1. The mother was heterozygous for the c.892G>T variant. CONCLUSION: This study describes the prenatal sonographic features of SGBS1, emphasizes the role of WES in the diagnosis of SGBS1 and expands the known mutation spectrum of the GPC3 gene.
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spelling pubmed-71402092020-04-13 Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses Xiang, Jingjing Zhang, Qin Song, Xiaoyan Liu, Yinghua Li, Haibo Li, Hong Wang, Ting J Int Med Res Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management OBJECTIVE: To diagnose and explore the genetic aetiology of Simpson–Golabi–Behmel syndrome type 1 (SGBS1) in two male fetuses. METHODS: Prenatal ultrasound scans and further genetic analysis using karyotype analysis, chromosomal microarray analysis, whole exome sequencing (WES) and Sanger sequencing were conducted. RESULTS: Prenatal ultrasound scans of two fetuses showed multiple congenital anomalies and hydramnios. Subsequent to termination of the pregnancies, a novel nonsense variant (c.892G>T, p.E298*) in the glypican 3 (GPC3) gene of the two fetuses was identified by WES and further confirmed by Sanger sequencing. The two fetuses were diagnosed with SGBS1. The mother was heterozygous for the c.892G>T variant. CONCLUSION: This study describes the prenatal sonographic features of SGBS1, emphasizes the role of WES in the diagnosis of SGBS1 and expands the known mutation spectrum of the GPC3 gene. SAGE Publications 2019-07-15 /pmc/articles/PMC7140209/ /pubmed/31304847 http://dx.doi.org/10.1177/0300060519859752 Text en © The Author(s) 2019 http://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
Xiang, Jingjing
Zhang, Qin
Song, Xiaoyan
Liu, Yinghua
Li, Haibo
Li, Hong
Wang, Ting
Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses
title Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses
title_full Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses
title_fullStr Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses
title_full_unstemmed Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses
title_short Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses
title_sort whole exome sequencing aids the diagnosis of simpson–golabi–behmel syndrome in two male fetuses
topic Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140209/
https://www.ncbi.nlm.nih.gov/pubmed/31304847
http://dx.doi.org/10.1177/0300060519859752
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