Identification of MeCP2 mutations in a series of females with autistic disorder
RM Carney, CM Wolpert, SA Ravan, M Shahbazian… - Pediatric …, 2003 - Elsevier
Rett disorder and autistic disorder are both pervasive developmental disorders. Recent
studies indicate that at least 80% of Rett Disorder cases are caused by mutations in the
methyl-CpG-binding protein 2 (MeCP2) gene. Since there is some phenotypic overlap
between autistic disorder and Rett disorder, we analyzed 69 females clinically diagnosed
with autistic disorder for the presence of mutations in the MeCP2 gene. Two autistic disorder
females were found to have de novo mutations in the MeCP2 gene. These data provide …
studies indicate that at least 80% of Rett Disorder cases are caused by mutations in the
methyl-CpG-binding protein 2 (MeCP2) gene. Since there is some phenotypic overlap
between autistic disorder and Rett disorder, we analyzed 69 females clinically diagnosed
with autistic disorder for the presence of mutations in the MeCP2 gene. Two autistic disorder
females were found to have de novo mutations in the MeCP2 gene. These data provide …