A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical fac...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2000
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| _version_ | 1826273037324910592 |
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| author | Guerrini, R Shanahan, J Carrozzo, R Bonanni, P Higgs, D Gibbons, R |
| author_facet | Guerrini, R Shanahan, J Carrozzo, R Bonanni, P Higgs, D Gibbons, R |
| author_sort | Guerrini, R |
| collection | OXFORD |
| description | Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical facial features of ATR-X syndrome, the other 2 patients presented with mild MR and epilepsy but without the characteristic facial dysmorphism. Mutations in the ATRX gene should be considered as a cause of mild MR in male patients lacking specific diagnostic features. |
| first_indexed | 2024-03-06T22:22:03Z |
| format | Journal article |
| id | oxford-uuid:5562b7d8-def2-452e-8dba-7f3e0505fe08 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T22:22:03Z |
| publishDate | 2000 |
| record_format | dspace |
| spelling | oxford-uuid:5562b7d8-def2-452e-8dba-7f3e0505fe082022-03-26T16:43:49ZA nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:5562b7d8-def2-452e-8dba-7f3e0505fe08EnglishSymplectic Elements at Oxford2000Guerrini, RShanahan, JCarrozzo, RBonanni, PHiggs, DGibbons, RMutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical facial features of ATR-X syndrome, the other 2 patients presented with mild MR and epilepsy but without the characteristic facial dysmorphism. Mutations in the ATRX gene should be considered as a cause of mild MR in male patients lacking specific diagnostic features. |
| spellingShingle | Guerrini, R Shanahan, J Carrozzo, R Bonanni, P Higgs, D Gibbons, R A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. |
| title | A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. |
| title_full | A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. |
| title_fullStr | A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. |
| title_full_unstemmed | A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. |
| title_short | A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. |
| title_sort | nonsense mutation of the atrx gene causing mild mental retardation and epilepsy |
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