Proband information


Proband id 2929
Systematic Name
(NM_004992.3:)		 c.-167_-99del
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.-7_62del
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363061_153363129del
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection MLPA
Extent exon 1
Source of DNA not known
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome:Mnatzakanian, G.N., Lohi, H., Munteanu, I., Alfred, S.E., Yamada, T., MacLeod, P.J.M., Jones, J.R., Scherer, S.W., Schanen, N.C., Friez, M.H., Vincent, J.B., Minassian, B.A.:Nature Genetics: 15034579

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-167_-99del p.(=) Female Rett syndrome-Not certain 1916 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:
2 c.-167_-99del p.(=) Female Rett syndrome-Atypical 2074 :Cardiff, UK::
3 c.-167_-99del p.(=) Female Rett syndrome-classical 2759 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
4 c.-167_-99del p.(=) Female Rett syndrome-not certain 2929 A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome:Mnatzakanian, G.N., Lohi, H., Munteanu, I., Alfred, S.E., Yamada, T., MacLeod, P.J.M., Jones, J.R., Scherer, S.W., Schanen, N.C., Friez, M.H., Vincent, J.B., Minassian, B.A.:Nature Genetics: 15034579
5 c.-167_-99del p.(=) Female Rett syndrome-atypical 3768 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
6 c.-167_-99del p.(=) Female de novo Rett syndrome-atypical 5136 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759