Proband information


Proband id 1199
Systematic Name
(NM_004992.3:)
c.753dupC
Protein name
(NP_004983)
p.Gly252fs
Alternate systematic Name
(NM_001110792.1:)
c.789dupC
Alternate Protein name
(NP_001104262)
p.(Gly264Argfs*7)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296526dupG
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Affected sister has variation, unaffected mother does not have variation, unaffected father does not have variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-Progressive encephalopathy of neonatal onset
Reference Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.753dupC p.Gly252fs Female Brain sample Rett syndrome-Not certain 369 :::
2 c.753dupC p.Gly252fs Male Affected sister has variation, unaffected mother does not have variation, unaffected father does not have variation Not Rett synd. 1199 Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564
3 c.753dupC p.Gly252fs Female Affected brother has variation, unaffected mother does not have variation, unaffected father does not have variation Rett syndrome-Classical 1200 Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564
4 c.753dupC p.Gly252fs Female Rett syndrome-Classical 2598 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.":Journal of Human Genetics: 17387578