Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability

Objective: To provide prenatal diagnosis for a pregnant woman with genetic history of intellectual disability. Case report: A Chinese pedigree with intellectual disability was collected in this study. Cytogenetic analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) follow...

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Autores principales:	Chunyan Jin, Hua Qian, Tianhui Xu, Jiao Chen, Xuefang Li, Zhiping Gu
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Whole exome sequencing TBR1 mutation Prenatal diagnosis Intellectual disability Gynecology and obstetrics RG1-991
Acceso en línea:	https://doaj.org/article/ae020221d53943dca1562571afe225a8
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spelling	oai:doaj.org-article:ae020221d53943dca1562571afe225a82021-11-18T04:44:48ZPrenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability1028-455910.1016/j.tjog.2021.09.023https://doaj.org/article/ae020221d53943dca1562571afe225a82021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1028455921002631https://doaj.org/toc/1028-4559Objective: To provide prenatal diagnosis for a pregnant woman with genetic history of intellectual disability. Case report: A Chinese pedigree with intellectual disability was collected in this study. Cytogenetic analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) followed by Sanger validation were conducted to identify the genetic pathogenesis. A novel heterozygous deletion c.370_374delTTCCC in TBR1 gene was identified, leading to a frameshift mutation starting at Phe124 followed by a premature stop codon at position 141 (p.Phe124Valfs∗18). Segregation analysis identified that this novel mutation is co-segregated among the affected family members but absent in unaffected family members. Prenatal diagnosis indicated the absence of this mutation, and the family decided to continue the pregnancy after genetic counseling. Conclusion: Our findings demonstrated the significance of genetic testing in the diagnosis of intellectual disability. This work also confirmed the effectiveness of WES in prenatal diagnosis.Chunyan JinHua QianTianhui XuJiao ChenXuefang LiZhiping GuElsevierarticleWhole exome sequencingTBR1 mutationPrenatal diagnosisIntellectual disabilityGynecology and obstetricsRG1-991ENTaiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1094-1097 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Whole exome sequencing TBR1 mutation Prenatal diagnosis Intellectual disability Gynecology and obstetrics RG1-991
spellingShingle	Whole exome sequencing TBR1 mutation Prenatal diagnosis Intellectual disability Gynecology and obstetrics RG1-991 Chunyan Jin Hua Qian Tianhui Xu Jiao Chen Xuefang Li Zhiping Gu Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
description	Objective: To provide prenatal diagnosis for a pregnant woman with genetic history of intellectual disability. Case report: A Chinese pedigree with intellectual disability was collected in this study. Cytogenetic analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) followed by Sanger validation were conducted to identify the genetic pathogenesis. A novel heterozygous deletion c.370_374delTTCCC in TBR1 gene was identified, leading to a frameshift mutation starting at Phe124 followed by a premature stop codon at position 141 (p.Phe124Valfs∗18). Segregation analysis identified that this novel mutation is co-segregated among the affected family members but absent in unaffected family members. Prenatal diagnosis indicated the absence of this mutation, and the family decided to continue the pregnancy after genetic counseling. Conclusion: Our findings demonstrated the significance of genetic testing in the diagnosis of intellectual disability. This work also confirmed the effectiveness of WES in prenatal diagnosis.
format	article
author	Chunyan Jin Hua Qian Tianhui Xu Jiao Chen Xuefang Li Zhiping Gu
author_facet	Chunyan Jin Hua Qian Tianhui Xu Jiao Chen Xuefang Li Zhiping Gu
author_sort	Chunyan Jin
title	Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
title_short	Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
title_full	Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
title_fullStr	Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
title_full_unstemmed	Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
title_sort	prenatal diagnosis by whole exome sequencing in a family with a novel tbr1 mutation causing intellectual disability
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/ae020221d53943dca1562571afe225a8
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_version_	1718425121246412800

Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability

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