Proband information


Proband id 1567
Systematic Name
(NM_004992.3:)		 c.[984C>T; 1161_1163del]
Protein name
(NP_004983)		 p.[Leu328Leu; Pro391del]
Alternate systematic Name
(NM_001110792.1:)		 c.[1020C>T;1197_1199del]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296295G>A;153296116_153296118del]
Mutation type Silent, in-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected sister 257-II-2 is carrier of both variations, affected brother 257-II-3 not a carrier, unaffected father 257-I-2 is carrier of both variations
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-autism only
Reference Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Female Unaffected sister 257-II-2 is carrier of both variations, affected brother 257-II-3 not a carrier, unaffected father 257-I-2 is carrier of both variations Not Rett synd. 1567 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
2 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Female Relative of proband Not Rett synd. 1568 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
3 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Male Relative of proband Not Rett synd. 1569 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770