Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report / María-Carmen CARRASCOSA-ROMERO ; Minerva MONTERO-HERNÁNDEZ ; Jesús RUIZ-ALMANSA ; Francisco SÁNCHEZ-SÁNCHEZ in Journal of Autism and Developmental Disorders, 54-1 (January 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-1 (January 2024) . - p.379-388 Titre : Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report Type de document : Texte imprimé et/ou numérique Auteurs : María-Carmen CARRASCOSA-ROMERO, Auteur ; Minerva MONTERO-HERNÁNDEZ, Auteur ; Jesús RUIZ-ALMANSA, Auteur ; Francisco SÁNCHEZ-SÁNCHEZ, Auteur Article en page(s) : p.379-388 Index. décimale : PER Périodiques Résumé : 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. En ligne : https://doi.org/10.1007/s10803-022-05588-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report [Texte imprimé et/ou numérique] / María-Carmen CARRASCOSA-ROMERO, Auteur ; Minerva MONTERO-HERNÁNDEZ, Auteur ; Jesús RUIZ-ALMANSA, Auteur ; Francisco SÁNCHEZ-SÁNCHEZ, Auteur . - p.379-388. in Journal of Autism and Developmental Disorders > 54-1 (January 2024) . - p.379-388 Index. décimale : PER Périodiques Résumé : 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. En ligne : https://doi.org/10.1007/s10803-022-05588-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

---

1 (1 - 1 / 1)