Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.

Autor: López-Garrido MP; Laboratorio de Genética Médica, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha (UCLM), Albacete, Spain., Carrascosa-Romero MC; Servicio de Neuropediatría, Complejo Hospitalario Universitario de Albacete, Albacete, Spain., Montero-Hernández M; Laboratorio de Genética Médica, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha (UCLM), Albacete, Spain., Ruiz-Almansa J; Laboratorio de Genética Médica, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha (UCLM), Albacete, Spain., Sánchez-Sánchez F; Laboratorio de Genética Médica, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha (UCLM), Albacete, Spain. francisco.ssanchez@uclm.es.
Jazyk: angličtina
Zdroj: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Jan; Vol. 54 (1), pp. 379-388. Date of Electronic Publication: 2022 May 20.
DOI: 10.1007/s10803-022-05588-x
Abstrakt: ATRX mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic manifestations like facial dimorphism, hypotonia, microcephaly, skeletal abnormalities or urogenital malformations have been frequently observed in ATR-X syndrome. Herein, we report a missense ATRX mutation (Thr1621Met) in a patient with an autism spectrum disorder (ASD) diagnosis. Except for ID, no typical signs of ATR-X syndrome were found in the patient. These results confirm the extensive phenotypic variability associated to ATRX mutations and show the involvement of this gene in the ASD.
(© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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