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首页> 外文期刊>Journal of pediatric neurology : >X-linked Joubert syndrome: Neuroimaging and clinical features associated with a novel mutation in oral-facial-digital syndrome type 1
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X-linked Joubert syndrome: Neuroimaging and clinical features associated with a novel mutation in oral-facial-digital syndrome type 1

机译：X连锁Joubert综合征：与1型口腔面部数字综合征新突变相关的神经影像学和临床特征

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摘要

Oral-facial-digital syndrome type 1 (OFD1; OMIM#311200) is a rare developmental disorder characterized by cra-niofacial, oral, skeletal abnormalities, cystic kidneys and neurological involvement including mental retardation. The syndrome is caused by mutations in the OFD1 gene and results in male lethality in the first or second trimester. The spectrum of phenotypes associated with mutations in OFD1 continues to expand, and genotype-phenotype correlations are beginning to be recognized. The spectrum includes Simpson-Golabi-Behmel syndrome type 2 (OMIM#300209) and X-linked Joubert syndrome (type 10) phenotype in addition to the classical OFD1 phenotype with early male lethality. We describe the neuroimaging and clinical findings in a 17-year-old male with a clinical diagnosis of Joubert syndrome associated with a novel mutation in the OFD1 gene (type 10). Our patient confirms the reported association of OFD1 mutation with X-linked recessive Joubert syndrome. This family is the fifth reported with X-linked Joubert syndrome, associated with a novel mutation in exon 17 of the OFD1 gene. We describe unique neuroimaging and clinical features associated with OFD1 mutations and highlight the utility of advanced neuroimaging techniques in characterizing the phenotype.
机译：1型口腔数字综合征（OFD1; OMIM＃311200）是一种罕见的发育障碍，其特征为颅面，口腔，骨骼异常，囊性肾脏和神经系统受累，包括智力低下。该综合症是由OFD1基因突变引起的，并导致孕中期或中期的男性致死率。与OFD1中的突变相关的表型范围不断扩大，并且基因型与表型的相关性也开始得到认可。除了具有早期男性致死力的经典OFD1表型外，该谱还包括2型Simpson-Golabi-Behmel综合征（OMIM＃300209）和X连锁Joubert综合征（10型）表型。我们描述了神经影像学和临床表现的一名17岁男性，其临床诊断为Joubert综合征与OFD1基因（10型）的新型突变有关。我们的患者证实了OFD1突变与X连锁隐性Joubert综合征的相关报道。该家族是第五个报告的X连锁Joubert综合征，与OFD1基因外显子17的新突变有关。我们描述了与OFD1突变相关的独特的神经影像学和临床特征，并强调了先进的神经影像学技术在表征表型中的作用。

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