High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters / Pauline CHASTE in Molecular Autism, (June 2012)  

Public ISBD [article]  inMolecular Autism > (June 2012) . - 13 p. Titre : High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters Type de document : Texte imprimé et/ou numérique Auteurs : Pauline CHASTE, Auteur ; Catalina BETANCUR, Auteur ; Marion GERARD-BLANLUET, Auteur ; Anne BARGIACCHI, Auteur ; Suzanne KUZBARI, Auteur ; Séverine DRUNAT, Auteur ; Marion LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; Richard DELORME, Auteur Année de publication : 2012 Article en page(s) : 13 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorder (ASD). Men with FXS exhibit ID, often associated with autistics features, whereas women heterozygous for the full mutation are typically less severely affected; about half have a normal or borderline intelligence quotient (IQ). Previous findings have shown a strong association between ID and ASD in both men and women with FXS. We describe here the case of two sisters with ASD and FXS but without ID. One of the sisters presented with high-functioning autism, the other one with pervasive developmental disorder not otherwise specified and low normal IQ. Methods The methylation status of the mutated FMR1 alleles was examined by Southern blot and methylation-sensitive polymerase chain reaction. The X-chromosome inactivation was determined by analyzing the methylation status of the androgen receptor at Xq12. Results We present the phenotype of the two sisters and other family members. Both sisters carried a full mutation in the FMR1 gene, with complete methylation and random X chromosome inactivation. Conclusions These findings suggest that autistic behaviors and cognitive impairment can manifest as independent traits in FXS. Mutations in FMR1, known to cause syndromic autism, may also contribute to the etiology of high-functioning, non-syndromic ASD, particularly in women. Thus, screening for FXS in patients with ASD should not be limited to those with comorbid ID. En ligne : http://dx.doi.org/10.1186/2040-2392-3-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters [Texte imprimé et/ou numérique] / Pauline CHASTE, Auteur ; Catalina BETANCUR, Auteur ; Marion GERARD-BLANLUET, Auteur ; Anne BARGIACCHI, Auteur ; Suzanne KUZBARI, Auteur ; Séverine DRUNAT, Auteur ; Marion LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; Richard DELORME, Auteur . - 2012 . - 13 p. Langues : Anglais (eng) in Molecular Autism > (June 2012) . - 13 p. Index. décimale : PER Périodiques Résumé : Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorder (ASD). Men with FXS exhibit ID, often associated with autistics features, whereas women heterozygous for the full mutation are typically less severely affected; about half have a normal or borderline intelligence quotient (IQ). Previous findings have shown a strong association between ID and ASD in both men and women with FXS. We describe here the case of two sisters with ASD and FXS but without ID. One of the sisters presented with high-functioning autism, the other one with pervasive developmental disorder not otherwise specified and low normal IQ. Methods The methylation status of the mutated FMR1 alleles was examined by Southern blot and methylation-sensitive polymerase chain reaction. The X-chromosome inactivation was determined by analyzing the methylation status of the androgen receptor at Xq12. Results We present the phenotype of the two sisters and other family members. Both sisters carried a full mutation in the FMR1 gene, with complete methylation and random X chromosome inactivation. Conclusions These findings suggest that autistic behaviors and cognitive impairment can manifest as independent traits in FXS. Mutations in FMR1, known to cause syndromic autism, may also contribute to the etiology of high-functioning, non-syndromic ASD, particularly in women. Thus, screening for FXS in patients with ASD should not be limited to those with comorbid ID. En ligne : http://dx.doi.org/10.1186/2040-2392-3-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

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