Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings

Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660F...

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Autores principales:	Rea Mittal BS, Ashutosh Kumar MD, Roger Ladda MD, Gayatra Mainali MD, Ermal Aliu MD
Formato:	article
Lenguaje:	EN
Publicado:	SAGE Publishing 2021
Materias:	Pediatrics RJ1-570 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/5c670dfe6da54ef7bc68e6fb0e7b9143
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spelling	oai:doaj.org-article:5c670dfe6da54ef7bc68e6fb0e7b91432021-11-10T22:33:19ZPitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings2329-048X10.1177/2329048X211055330https://doaj.org/article/5c670dfe6da54ef7bc68e6fb0e7b91432021-11-01T00:00:00Zhttps://doi.org/10.1177/2329048X211055330https://doaj.org/toc/2329-048XPitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660Ffsx9 frameshift variant have not been published previously. In this case report, the proband is a seven year old female with PTHLS1, developmental delay, autism spectrum disorder, focal epilepsy, hypotonia, refractory errors, strabismus, and obstructive sleep apnea. Whole exome sequencing analysis revealed biallelic pathogenic variants of the CNTNAP2 gene. Proband has a three year old sister who has who has a similar phenotype including, developmental delay, epilepsy, gait abnormality, refractory errors, strabismus. Family variants were tested and she shared the same CNTNAP2 variants as her sister. The sisters described highlight two novel variants leading to PTHLS1. Genetic workup is essential in identification and management guidance in these populations.Rea Mittal BSAshutosh Kumar MDRoger Ladda MDGayatra Mainali MDErmal Aliu MDSAGE PublishingarticlePediatricsRJ1-570Neurology. Diseases of the nervous systemRC346-429ENChild Neurology Open, Vol 8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Pediatrics RJ1-570 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Pediatrics RJ1-570 Neurology. Diseases of the nervous system RC346-429 Rea Mittal BS Ashutosh Kumar MD Roger Ladda MD Gayatra Mainali MD Ermal Aliu MD Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
description	Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660Ffsx9 frameshift variant have not been published previously. In this case report, the proband is a seven year old female with PTHLS1, developmental delay, autism spectrum disorder, focal epilepsy, hypotonia, refractory errors, strabismus, and obstructive sleep apnea. Whole exome sequencing analysis revealed biallelic pathogenic variants of the CNTNAP2 gene. Proband has a three year old sister who has who has a similar phenotype including, developmental delay, epilepsy, gait abnormality, refractory errors, strabismus. Family variants were tested and she shared the same CNTNAP2 variants as her sister. The sisters described highlight two novel variants leading to PTHLS1. Genetic workup is essential in identification and management guidance in these populations.
format	article
author	Rea Mittal BS Ashutosh Kumar MD Roger Ladda MD Gayatra Mainali MD Ermal Aliu MD
author_facet	Rea Mittal BS Ashutosh Kumar MD Roger Ladda MD Gayatra Mainali MD Ermal Aliu MD
author_sort	Rea Mittal BS
title	Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
title_short	Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
title_full	Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
title_fullStr	Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
title_full_unstemmed	Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
title_sort	pitt hopkins-like syndrome 1 with novel cntnap2 mutation in siblings
publisher	SAGE Publishing
publishDate	2021
url	https://doaj.org/article/5c670dfe6da54ef7bc68e6fb0e7b9143
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Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings

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