Proband information
Proband id | 1992 |
---|---|
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 | 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 |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | Familial |
Phenotype-class | Not Rett synd.-X-linked 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 |