Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study

Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, abnormal facial features, and digital and genital deformities. FGD1 gene variation is the known cause of this disorder. This paper described a Chinese family study of Aarskog-Scott syndrome in which the main patients w...

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Autores principales: Liang, Yijia, Wu, Honglin, He, Xiumei, He, Xiyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424661/
https://www.ncbi.nlm.nih.gov/pubmed/36051692
http://dx.doi.org/10.3389/fgene.2022.932073
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author Liang, Yijia
Wu, Honglin
He, Xiumei
He, Xiyu
author_facet Liang, Yijia
Wu, Honglin
He, Xiumei
He, Xiyu
author_sort Liang, Yijia
collection PubMed
description Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, abnormal facial features, and digital and genital deformities. FGD1 gene variation is the known cause of this disorder. This paper described a Chinese family study of Aarskog-Scott syndrome in which the main patients were two brothers. Then, the relationship between genotype and phenotype in Aarskog-Scott syndrome was investigated preliminarily. A new FGD1 gene variant was revealed in this study, providing insights into the link between phenotype and genotype variations in Aarskog-Scott syndrome as well as a foundation for its diagnosis and treatment.
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spelling pubmed-94246612022-08-31 Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study Liang, Yijia Wu, Honglin He, Xiumei He, Xiyu Front Genet Genetics Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, abnormal facial features, and digital and genital deformities. FGD1 gene variation is the known cause of this disorder. This paper described a Chinese family study of Aarskog-Scott syndrome in which the main patients were two brothers. Then, the relationship between genotype and phenotype in Aarskog-Scott syndrome was investigated preliminarily. A new FGD1 gene variant was revealed in this study, providing insights into the link between phenotype and genotype variations in Aarskog-Scott syndrome as well as a foundation for its diagnosis and treatment. Frontiers Media S.A. 2022-08-16 /pmc/articles/PMC9424661/ /pubmed/36051692 http://dx.doi.org/10.3389/fgene.2022.932073 Text en Copyright © 2022 Liang, Wu, He and He. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Liang, Yijia
Wu, Honglin
He, Xiumei
He, Xiyu
Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
title Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
title_full Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
title_fullStr Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
title_full_unstemmed Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
title_short Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
title_sort case report: aarskog-scott syndrome caused by fgd1 gene variation: a family study
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424661/
https://www.ncbi.nlm.nih.gov/pubmed/36051692
http://dx.doi.org/10.3389/fgene.2022.932073
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