Proband information



Proband id 7009
Systematic Name [c.695 G > T; c.880C > T]
Protein name p.[Gly232Val;Arg294*]
Mutation type missense,nonsense
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection Direct
Extent
Source of DNA blood
Carrier Y
Carrier result Not found in parents and unaffected sister
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-
Reference First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation:Rania Ghorbel , Raouia Ghorbel , Aida Rouissi , Nourhene Fendri-Kriaa , Ghada Ben Salah , Neila Belguith , Leila Ammar-Keskes , Neziha Gouider-Khouja , Faiza Fakhfakh:Biochemical and Biophysical Research Communications: 29421650

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 [c.695 G > T; c.880C > T] p.[Gly232Val;Arg294*] missense,nonsense TRD Mutation associated with disease Female Rett syndrome- 7009 First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation:Rania Ghorbel , Raouia Ghorbel , Aida Rouissi , Nourhene Fendri-Kriaa , Ghada Ben Salah , Neila Belguith , Leila Ammar-Keskes , Neziha Gouider-Khouja , Faiza Fakhfakh:Biochemical and Biophysical Research Communications: 29421650