A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China

Background: The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and f...

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Autores principales:	Baiyu Lyu, Yan Dong, Juan Kang
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	NACC1 intellectual disability infantile epilepsy congenital cataract feeding difficulties Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/8a36958bf66e4803b0d5c73f57e477fb
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spelling	oai:doaj.org-article:8a36958bf66e4803b0d5c73f57e477fb2021-11-15T06:48:39ZA New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China2296-236010.3389/fped.2021.754261https://doaj.org/article/8a36958bf66e4803b0d5c73f57e477fb2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.754261/fullhttps://doaj.org/toc/2296-2360Background: The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties.Case Presentation: We report a new case with a neurodevelopmental disorder characterized by severe intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. Brain MRI reveals brain dysplasia. We observe a de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 gene in this case. Now, the child regularly goes to the hospital for rehabilitation training (once a month). Sodium Valproate (10 mg/kg/day) and Clobazam (10 mg/kg/day) are used in the treatment of epilepsy. A total of three articles were screened, and two papers were excluded. The search revealed one article related to a syndrome caused by a de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1; they screened the main clinical features of eight cases of a syndrome, which were summarized and analyzed.Conclusions: The NACC1 gene is a member of the BTB/POZ family of transcription factors. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. At present, there is no effective cure. In the future, we need more cases to determine the phenotype–genotype correlation of NACC1 variants. Many questions remain to be answered, and many challenges remain to be faced. Future transcriptional studies may further clarify this rare, recurrent variant, and could potentially lead to targeted therapies.Baiyu LyuYan DongJuan KangFrontiers Media S.A.articleNACC1intellectual disabilityinfantile epilepsycongenital cataractfeeding difficultiesPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	NACC1 intellectual disability infantile epilepsy congenital cataract feeding difficulties Pediatrics RJ1-570
spellingShingle	NACC1 intellectual disability infantile epilepsy congenital cataract feeding difficulties Pediatrics RJ1-570 Baiyu Lyu Yan Dong Juan Kang A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China
description	Background: The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties.Case Presentation: We report a new case with a neurodevelopmental disorder characterized by severe intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. Brain MRI reveals brain dysplasia. We observe a de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 gene in this case. Now, the child regularly goes to the hospital for rehabilitation training (once a month). Sodium Valproate (10 mg/kg/day) and Clobazam (10 mg/kg/day) are used in the treatment of epilepsy. A total of three articles were screened, and two papers were excluded. The search revealed one article related to a syndrome caused by a de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1; they screened the main clinical features of eight cases of a syndrome, which were summarized and analyzed.Conclusions: The NACC1 gene is a member of the BTB/POZ family of transcription factors. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. At present, there is no effective cure. In the future, we need more cases to determine the phenotype–genotype correlation of NACC1 variants. Many questions remain to be answered, and many challenges remain to be faced. Future transcriptional studies may further clarify this rare, recurrent variant, and could potentially lead to targeted therapies.
format	article
author	Baiyu Lyu Yan Dong Juan Kang
author_facet	Baiyu Lyu Yan Dong Juan Kang
author_sort	Baiyu Lyu
title	A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China
title_short	A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China
title_full	A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China
title_fullStr	A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China
title_full_unstemmed	A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China
title_sort	new case of de novo variant c.892c>t (p.arg298trp) in nacc1: a first case report from china
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/8a36958bf66e4803b0d5c73f57e477fb
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A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China

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