Identification of MeCP2 mutations in a series of females with autistic disorder.
Publication
, Journal Article
Carney, RM; Wolpert, CM; Ravan, SA; Shahbazian, M; Ashley-Koch, A; Cuccaro, ML; Vance, JM; Pericak-Vance, MA
Published in: Pediatr Neurol
March 2003
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 additional evidence of variable expression in the Rett disorder phenotype and suggest MeCP2 testing may be warranted for females presenting with autistic disorder.
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Published In
Pediatr Neurol
DOI
ISSN
0887-8994
Publication Date
March 2003
Volume
28
Issue
3
Start / End Page
205 / 211
Location
United States
Related Subject Headings
- Repressor Proteins
- Neurology & Neurosurgery
- Mutation
- Molecular Sequence Data
- Methyl-CpG-Binding Protein 2
- Humans
- Female
- DNA-Binding Proteins
- Chromosomal Proteins, Non-Histone
- Child, Preschool
Citation
APA
Chicago
ICMJE
MLA
NLM
Carney, R. M., Wolpert, C. M., Ravan, S. A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M. L., … Pericak-Vance, M. A. (2003). Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol, 28(3), 205–211. https://doi.org/10.1016/s0887-8994(02)00624-0
Carney, Regina M., Chantelle M. Wolpert, Sarah A. Ravan, Mona Shahbazian, Allison Ashley-Koch, Michael L. Cuccaro, Jeffery M. Vance, and Margaret A. Pericak-Vance. “Identification of MeCP2 mutations in a series of females with autistic disorder.” Pediatr Neurol 28, no. 3 (March 2003): 205–11. https://doi.org/10.1016/s0887-8994(02)00624-0.
Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003 Mar;28(3):205–11.
Carney, Regina M., et al. “Identification of MeCP2 mutations in a series of females with autistic disorder.” Pediatr Neurol, vol. 28, no. 3, Mar. 2003, pp. 205–11. Pubmed, doi:10.1016/s0887-8994(02)00624-0.
Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003 Mar;28(3):205–211.
Published In
Pediatr Neurol
DOI
ISSN
0887-8994
Publication Date
March 2003
Volume
28
Issue
3
Start / End Page
205 / 211
Location
United States
Related Subject Headings
- Repressor Proteins
- Neurology & Neurosurgery
- Mutation
- Molecular Sequence Data
- Methyl-CpG-Binding Protein 2
- Humans
- Female
- DNA-Binding Proteins
- Chromosomal Proteins, Non-Histone
- Child, Preschool