Proband information


Proband id 4445
Systematic Name
(NM_004992.3:)
c.-114_-104del11
Protein name
(NP_004983)
p.(=)
Alternate systematic Name
(NM_001110792.1:)
c.47_57del11
Alternate Protein name
(NP_001104262)
p.(Gly16Glufs*22)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153363066_153363076del11
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Known
Reference :Das, S., Dempsey, M. U. Chicago::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-114_-104del11 p.(=) Female de novo Rett syndrome-atypical 2801 Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome:Amir, R.E., Fang, P., Yu, Z., Glaze, D.G., Percy, A.K., Zoghbi, H.Y., Roa, B.B., Van den Veyver, I.B.:Journal of Medical Genetics: 15689438
2 c.-114_-104del11 p.(=) Female de novo Rett syndrome-classical 2803 Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422
3 c.-114_-104del11 p.(=) Female Rett syndrome-atypical 2916 Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2:Saxena, A., de Lagarde, D., Leonard, H., Williamson, S.L., Vasudevan, V., Christodoulou, J., Thompson, E., MacLeod, P., Ravine, D.:J Med Genet: 16155192
4 c.-114_-104del11 p.(=) Female absent in parents and brother Rett syndrome-not certain 2928 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.-114_-104del11 p.(=) Female Not Known 4445 :Das, S., Dempsey, M. U. Chicago::
6 c.-114_-104del11 p.(=) Male Not Known 4446 :Das, S., Dempsey, M. U. Chicago::
7 c.-114_-104del11 p.(=) Female de novo Rett syndrome-classical 5121 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
8 c.-114_-104del11 p.(=) Female Not Rett synd. 6628 :::