Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report
| Autor: | Ahlam Gabr, Raquel Tena, Halima Al-Shehhi, Almundher Al-Maawali, Watfa Al-Maamari, Intisar Al-Haddabi, Anna Baquero |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
MAGED1 protein
Joint hypermobility lcsh:Medicine Locus (genetics) Case Report GSPT2 protein human 03 medical and health sciences 0302 clinical medicine Intellectual Disability Intellectual disability Medicine Deletion syndrome human Gene 030304 developmental biology Genetics 0303 health sciences business.industry Microarray analysis techniques lcsh:R General Medicine GSPT2 protein medicine.disease Microarray Analysis Phenotype Hypotonia MAGED1 protein human medicine.symptom business 030217 neurology & neurosurgery Chromosome Xp11.3 Deletion Syndrome |
| Zdroj: | Oman Medical Journal Oman Medical Journal, Vol 34, Iss 5, Pp 460-463 (2019) |
| ISSN: | 2070-5204 1999-768X |
| Popis: | Intellectual disability (ID) is the most common diagnosis noted among children with genetic disorders. It causes social and economic burden to families and communities. The genetic causes are not completely understood, and there is significant heterogeneity. Recently, a new chromosomal X-linked syndrome was reported to cause ID. Four males were described from three families with ID, developmental delay, hypotonia, joint hypermobility, and relative macrocephaly. They all carried small, overlapping Xp11.22 deletions. To date, the described smallest region of overlapping deletion at this locus spanned ~ 430 kb) and included four genes (CENPVL1, CENPVL2, MAGED1, and GSPT2), which are proposed as the main drivers of the phenotype. We describe a male patient who matches the phenotype and contributes to defining a narrow phenocritical region at Xp11.22. We propose that GSPT2 loss-of-function might be the probable cause of the phenotypic features seen in these patients. |
| Databáze: | OpenAIRE |
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