Proband information
Proband id | 3781 |
---|---|
Systematic Name (NM_004992.3:) |
c.378-?_*?del |
Protein name (NP_004983) |
p.Asn126fs |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | exon deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | RT-PCR |
Extent | exons 2-4 |
Source of DNA | not known |
Carrier | N |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-Not certain | 1864 | :Bunyan, D.:: | |
2 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-Not certain | 1917 | Evaluation of the Multiplex Ligation-Dependent Probe Amplification (MLPA) technology in the diagnosis of Rett syndrome:Boulanger, S., Mariage, L., Van Maldergem, L., Gillerot, Y. and Hilbert, P.:American journal of human genetics: | |
3 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3325 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
4 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3326 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
5 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3327 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
6 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3328 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
7 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3329 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
8 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3330 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
9 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3351 | Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082 | |
10 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3352 | Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082 | |
11 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-classical | 3781 | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 |