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 |