Variant information


Systematic Name c.-168-?_*?dup
Protein name p.Met1?
Mutation type In-frame insertion or deletion
Domain N-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection qPCR
Extent Exons 1-4
Evidence of Pathogenicity
Carrier status checked NA
Carrier result See description for T88-III.2
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-Unaffected family member
Reference Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1971 Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome:M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen:Journal of Medical Genetics: 15689435
2 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1972 Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome:M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen:Journal of Medical Genetics: 15689435
3 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1982 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
4 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1983 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
5 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1984 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
6 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1985 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
7 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1986 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
8 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1987 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
9 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1988 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
10 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1989 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
11 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1990 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
12 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1991 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
13 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1992 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
14 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1993 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
15 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1994 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
16 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1995 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119
17 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1996 Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119