Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I
| Autor: | Mahmoud Y. Issa, Mohamed S. Abdel-Hamid, Nihal A. Hassan, Laila K. Effat, Ghada M H Abdel-Salam, Samira Ismail, Mona Aglan, Maha S. Zaki |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Dwarfism Osteodysplastic primordial dwarfism Biology Osteochondrodysplasias Corpus Callosum Thalamic Diseases Young Adult Hematoma Ribonucleoproteins Small Nucleolar Genetics medicine Humans Abnormalities Multiple Chilblains Genetics (clinical) Fetal Growth Retardation Infant Newborn Cortical malformations Anatomy medicine.disease Oculocutaneous albinism Phenotype Mutation Microcephaly Retinal pigmentation Cerebellar vermis Female Interhemispheric cyst Pigmentation Disorders |
| Zdroj: | American Journal of Medical Genetics Part A. 161:1875-1881 |
| ISSN: | 1552-4825 |
| Popis: | We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well. © 2013 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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