Abstract
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.
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This study was funded by Health Service of Castilla-La Mancha
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MPLG carried out the analysis and interpretation of the data, and manuscript writing. MCCR recruited the family, participated in the data acquisition, did the clinical examination to the individuals and contributed to the conception and design of this study. MMH and JRA contributed to the data analysis. FSS contributed to the conception and design of this study, and interpretation of the results. All the authors contributed to review the manuscript and read and approved the final manuscript.
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López-Garrido, MP., Carrascosa-Romero, MC., Montero-Hernández, M. et al. Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report. J Autism Dev Disord 54, 379–388 (2024). https://doi.org/10.1007/s10803-022-05588-x
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DOI: https://doi.org/10.1007/s10803-022-05588-x