Variant information


Systematic Name c.378-?_*?del
Protein name p.Asn126fs
Mutation type exon deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA not known
Detection gene dosage analysis
Extent exons 3 and 4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-Not certain 1864 :Bunyan, D.::
2 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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 exon deletion MBD Mutation associated with disease 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