Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder

A 5‐year‐old affected male had following phenotypes: autism, motor stereotypy, developmental regression, staring gaze, absent speech, and behavioral abnormality. The biochemical testing was normal and genetic testing identified a de novo pathogenic variant in ITSN1 gene in the proband. To our knowle...

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Veröffentlicht in:	Clinical genetics 2024-04, Vol.105 (4), p.455-456
Hauptverfasser:	Liaqat, Khurram, Treat, Kayla, Wilson, Theodore E., Conboy, Erin, Vetrini, Francesco
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism autism spectrum disorder autosomal dominant or de novo variants Genetic screening Hereditary diseases ITSN1 Neurodevelopmental disorders Phenotypes rare disease Stereotyped behavior
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creator	Liaqat, Khurram Treat, Kayla Wilson, Theodore E. Conboy, Erin Vetrini, Francesco
description	A 5‐year‐old affected male had following phenotypes: autism, motor stereotypy, developmental regression, staring gaze, absent speech, and behavioral abnormality. The biochemical testing was normal and genetic testing identified a de novo pathogenic variant in ITSN1 gene in the proband. To our knowledge, this is the second report that elucidates the role of ITSN1 gene in an autosomal dominant neurodevelopmental disorder.
doi_str_mv	10.1111/cge.14497
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subjects	Autism autism spectrum disorder autosomal dominant or de novo variants Genetic screening Hereditary diseases ITSN1 Neurodevelopmental disorders Phenotypes rare disease Stereotyped behavior
title	Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder
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