FLNA公司
无症状的
胼胝体
白质
心理学
医学
儿科
病理
菲拉明
遗传学
生物
磁共振成像
放射科
细胞骨架
细胞
作者
Marion Gérard-Blanluet,Volney L. Sheen,Kalotina Machinis,Jason Neal,Kira Apse,Claude Danan,M Sinico,Pierre Brugières,K. Mage,Lanto Ratsimbazafy,Annie Elbez,Jean-Claude Janaud,Serge Amselem,Christopher A. Walsh,Féréchté Encha‐Razavi
摘要
Abstract 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. © 2006 Wiley‐Liss, Inc.
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