Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males
| Autor: | Katia Mage, Annie Elbez, Kira Apse, Martine Sinico, Serge Amselem, Claude Danan, Jason Neal, Jean-Claude Janaud, Volney L. Sheen, Kalotina Machinis, Marion Gérard-Blanluet, Lanto Ratsimbazafy, Christopher A. Walsh, Pierre Brugières, Férechté Encha-Razavi |
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| Rok vydání: | 2006 |
| Předmět: |
Lung Diseases
Male medicine.medical_specialty Pediatrics Filamins Dizygotic twin Molecular Sequence Data Choristoma Asymptomatic Cerebral Ventricles Epilepsy Contractile Proteins Fatal Outcome Internal medicine Twins Dizygotic Genetics medicine Humans Point Mutation FLNA Amino Acid Sequence Genetics (clinical) X chromosome Genes Dominant Family Health Brain Diseases Sequence Homology Amino Acid business.industry Microgyria Microfilament Proteins Infant Genetic Diseases X-Linked medicine.disease Pedigree Periventricular heterotopia Endocrinology Neuronal migration disorder Female medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics Part A. :1041-1046 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.31197 |
| Popis: | We report on the case of dizygotic twin boys, born prematurely to an asymptomatic mother. Bilateral periventricular heterotopias with enlarged ventricles were discovered at birth in both twins. One of the twins died prematurely of bronchopulmonary complications, and was shown to have several neuropathological anomalies (microgyria, thin corpus callosum, and reduced white matter). The surviving twin had mental retardation, without epilepsy. MRI of the mother showed asymptomatic periventricular heterotopias without ventricular enlargement. She had two affected daughters also with asymptomatic periventricular heterotopias. A point mutation in the last coding exon 48 of the Filamin A (FLNA) gene (7922c > t) was discovered on sequencing and segregated with the affected individuals. This family has a classical X-linked dominant BPNH pathology, with greater severity in males than females. The location of the FLNA mutation is discussed in light of the neuropathological anomalies and mental retardation in male patients. |
| Databáze: | OpenAIRE |
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