A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report

ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5′-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane. Overwhelming evidence suggests that defects in this protein can...

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Autores principales:	Tong Qiu, Qian Dai, Qiu Wang
Formato:	article
Lenguaje:	EN
Publicado:	SAGE Publishing 2021
Materias:	Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/9053230a0dc94142a3f1f50bc5435124
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spelling	oai:doaj.org-article:9053230a0dc94142a3f1f50bc54351242021-12-02T08:04:54ZA novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report1473-230010.1177/03000605211058372https://doaj.org/article/9053230a0dc94142a3f1f50bc54351242021-11-01T00:00:00Zhttps://doi.org/10.1177/03000605211058372https://doaj.org/toc/1473-2300ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5′-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane. Overwhelming evidence suggests that defects in this protein can cause X-linked intellectual disability, which comprises a series of clinical phenotypes, including autism spectrum disorder, behavior disorder, intellectual disability, and febrile seizures. Here, we report a boy with clinical symptoms of severe intellectual disability, epilepsy, and developmental delay and regression. Trio exome sequencing ( trio -clinical exome sequencing) identified a novel hemizygous deletion, c.656_c.669delACTTCTTTGAGGCC (p. His219Leu fs*9), in exon 5 of ARHGEF9 . This variant was not reported in either the Genome Aggregation Database or our database of 309 patients with neurodevelopmental disorders. Oxcarbazepine and levetiracetam reduced the frequency of the patient’s epileptic seizures to a certain extent, but psychomotor developmental delay and developmental regression became more obvious with age. This case study seeks to report a de novo loss-of-function mutation of ARHGEF9, aiming to emphasize the genetic diagnosis of X-linked intellectual disability and further improve knowledge of the ethnic distribution of ARHGEF9 mutations.Tong QiuQian DaiQiu WangSAGE PublishingarticleMedicine (General)R5-920ENJournal of International Medical Research, Vol 49 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine (General) R5-920
spellingShingle	Medicine (General) R5-920 Tong Qiu Qian Dai Qiu Wang A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report
description	ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5′-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane. Overwhelming evidence suggests that defects in this protein can cause X-linked intellectual disability, which comprises a series of clinical phenotypes, including autism spectrum disorder, behavior disorder, intellectual disability, and febrile seizures. Here, we report a boy with clinical symptoms of severe intellectual disability, epilepsy, and developmental delay and regression. Trio exome sequencing ( trio -clinical exome sequencing) identified a novel hemizygous deletion, c.656_c.669delACTTCTTTGAGGCC (p. His219Leu fs*9), in exon 5 of ARHGEF9 . This variant was not reported in either the Genome Aggregation Database or our database of 309 patients with neurodevelopmental disorders. Oxcarbazepine and levetiracetam reduced the frequency of the patient’s epileptic seizures to a certain extent, but psychomotor developmental delay and developmental regression became more obvious with age. This case study seeks to report a de novo loss-of-function mutation of ARHGEF9, aiming to emphasize the genetic diagnosis of X-linked intellectual disability and further improve knowledge of the ethnic distribution of ARHGEF9 mutations.
format	article
author	Tong Qiu Qian Dai Qiu Wang
author_facet	Tong Qiu Qian Dai Qiu Wang
author_sort	Tong Qiu
title	A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report
title_short	A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report
title_full	A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report
title_fullStr	A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report
title_full_unstemmed	A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report
title_sort	novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report
publisher	SAGE Publishing
publishDate	2021
url	https://doaj.org/article/9053230a0dc94142a3f1f50bc5435124
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A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report

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