Proband information


Proband id 2162
Systematic Name
(NM_004992.3:)
c.-143_-138dup
Protein name
(NP_004983)
p.(=)
Alternate systematic Name
(NM_001110792.1:)
c.18_23dup
Alternate Protein name
(NP_001104262)
p.(Ala7_Ala8dup)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153363100_153363105dup
Mutation type In-frame insertion or deletion
Domain N-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Atypical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-143_-138dup p.(=) Female Rett syndrome-Atypical 2162 :Cardiff, UK::
2 c.-143_-138dup p.(=) Female mother (phenotype: seizures) carrier, not in affected sister with milder phenotype Rett syndrome-atypical 2758 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352
3 c.-143_-138dup p.(=) Female Rett syndrome-classical 2912 Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913
4 c.-143_-138dup p.(=) Female two daughters with intellectual disability and seizures, found in one only with more severe autistic features Not Rett synd. 3987 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352
5 c.-143_-138dup p.(=) Female identified in phenotypically normal father, absent in mother Not Known 5113 :::
6 c.-143_-138dup p.(=) Male found in affected daughter Not Rett synd. 5114 :::