Proband information


Proband id 835
Systematic Name
(NM_004992.3:)		 c.1161_1400del240
Protein name
(NP_004983)		 p.Pro388_Pro467del
Alternate systematic Name
(NM_001110792.1:)		 c.1197_1436del240
Alternate Protein name
(NP_001104262)		 p.(Pro400_Pro479del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295879_153296118del240
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection PCR/diagnostic restriction
Extent Part of exon 4
Source of DNA
Carrier NA
Carrier result Relative of proband
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-Unaffected family member
Reference In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1161_1400del240 p.Pro388_Pro467del Female Not Rett synd. 837 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877
2 c.1161_1400del240 p.Pro388_Pro467del Male Mutation not present in unaffected father, mutation present in unaffected mother, mutation not present in unaffected maternal grandfather, mutation present in unaffected maternal grandmother, mutation not present in unaffected maternal aunt, mutation present in both maternal uncles Not Rett synd. 836 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877
3 c.1161_1400del240 p.Pro388_Pro467del Female Relative of proband Not Rett synd. 835 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877
4 c.1161_1400del240 p.Pro388_Pro467del Male Mutation present in unaffected mother, mutation not present in unaffected father, mutation present in affected fraternal twin brother, mutation not present in unaffected sister, mutation present in unaffected sister, mutation present in affected nephew Not Rett synd. 834 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877
5 c.1161_1400del240 p.Pro388_Pro467del Male Mutation present in unaffected mother, mutation not present in unaffected father, mutation present in affected fraternal twin brother, mutation not present in unaffected sister, mutation present in unaffected sister, mutation present in affected nephew Not Rett synd. 833 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877