Proband information


Proband id 5301
Systematic Name
(NM_004992.3:)		 c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA
Protein name
(NP_004983)		 p.Pro389*
Alternate systematic Name
(NM_001110792.1:)		 c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA
Alternate Protein name
(NP_001104262)		 p.(Pro401*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection not stated
Extent not certain
Source of DNA lymphocytes for XCI
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-ADHD, global developmental delay and OCD
Reference Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* Female Not Rett synd. 5301 Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973
2 c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* Female de novo Rett syndrome-atypical 4821 Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873