Proband information


Proband id 4221
Systematic Name
(NM_004992.3:)
c.1142_1227del86
Protein name
(NP_004983)
p.Pro381fs
Alternate systematic Name
(NM_001110792.1:)
c.1178_1263del86
Alternate Protein name
(NP_001104262)
p.(Pro393Glnfs*26)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296052_153296137del86
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 3,4
Source of DNA blood
Carrier Y
Carrier result found in two sons with atypical RTT
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1142_1227del86 p.Pro381fs Male found in affected brother but not in unaffected mother Rett syndrome-male variant 4219 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342
2 c.1142_1227del86 p.Pro381fs Male found in affected brother but not in unaffected mother Rett syndrome-male variant 4220 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342
3 c.1142_1227del86 p.Pro381fs Female found in two sons with atypical RTT Not Rett synd. 4221 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342