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 |
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| container_title | Clinical genetics |
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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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| ispartof | Clinical genetics, 2024-04, Vol.105 (4), p.455-456 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Autism autism spectrum disorder Autistic Disorder autosomal dominant or de novo variants Child, Preschool Family Genetic screening Genetic Testing Hereditary diseases Humans ITSN1 Male Neurodevelopmental disorders Phenotype Phenotypes rare disease Stereotyped behavior |
| title | Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder |
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