Proband information


Proband id 1984
Systematic Name
(NM_004992.3:)
c.-168-?_*?dup
Protein name
(NP_004983)
p.Met1?
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type In-frame insertion or deletion
Domain N-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection qPCR
Extent Exons 1-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected mother with extreme skewing is a carrier, unaffected grandmother with extreme skewing is a carrier, unaffected sister is not a carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Sporadic mental retardation
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 Gender Carrier result Phenotype Proband id Reference
1 c.-168-?_*?dup p.Met1? Male Gene duplication found in unaffected mother who has strongly skewed X-inactivation, duplication not found in unaffected brother, father or maternal uncle 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? Female Relative of proband 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? Male Uncle with mental retardation L36-III.4 is a carrier, some unaffected females were carriers, unaffected male relatives were not carriers 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? Male See description for L36-IV.1 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? Male Unaffected mother with extreme skewing is a carrier, unaffected grandmother with extreme skewing is a carrier, unaffected sister is not a carrier 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? Female See description for S49-III.2 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? Female See description for S49-III.2 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? Male Affected half-uncle T33-II.2 is a carrier, unaffected uncle T33-II.6 is not a carrier, grandmother T33-I.1 is carrier, mother T33-II.4 is carrier, aunt T33-II.5 is carrier, half-aunt T33-II.1 is not a carrier 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? Male See description for T33-III.1 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? Female See description for T33-III.1 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? Female See description for T33-III.1 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? Female See description for T33-III.1 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? Male Affected uncle T88-II.4 is carrier, unaffected brother T88-III.1 is not a carrier, grandmother T88-I.1 and mother T88-II.2 are carriers, aunt T88-II.3 is a carrier 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? Male See description for T88-III.2 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? Female See description for T88-III.2 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? Female See description for T88-III.2 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? Female See description for T88-III.2 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