Proband information


Proband id 2498
Systematic Name
(NM_004992.3:)
c.-168-?_26+?del
Protein name
(NP_004983)
p.Met1?
Alternate systematic Name
(NM_001110792.1:)
c.-8_62+5419del
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153357642_153363130del
Mutation type exon deletions
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Direct for exon 1, MLPA for exons 1-4
Extent Exon 1
Source of DNA Blood
Carrier Y
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-168-?_26+?del p.Met1? Female Rett syndrome-Not certain 1820 :Bunyan, D.::
2 c.-168-?_26+?del p.Met1? Female Rett syndrome-Not certain 1865 :Bunyan, D.::
3 c.-168-?_26+?del p.Met1? Female Rett syndrome-Classical 2073 :Cardiff, UK::
4 c.-168-?_26+?del p.Met1? Female Rett syndrome-Atypical 2075 :Cardiff, UK::
5 c.-168-?_26+?del p.Met1? Female Rett syndrome-Classical 2076 :Cardiff, UK::
6 c.-168-?_26+?del p.Met1? Female Neither parent has variation Rett syndrome-Classical 2498 Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165
7 c.-168-?_26+?del p.Met1? Female Rett syndrome-Classical 2534 Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379
8 c.-168-?_26+?del p.Met1? Female Rett syndrome-classical 2760 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352
9 c.-168-?_26+?del p.Met1? Female Rett syndrome-classical 2761 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352
10 c.-168-?_26+?del p.Met1? Female Rett syndrome-classical 2783 Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625
11 c.-168-?_26+?del p.Met1? Female de novo Rett syndrome-not certain 3611 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
12 c.-168-?_26+?del p.Met1? Female Rett syndrome-classical 3769 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
13 c.-168-?_26+?del p.Met1? Female Rett syndrome-classical 3770 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
14 c.-168-?_26+?del p.Met1? Female Rett syndrome-classical 3771 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