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首页> 外文期刊>Molecular syndromology >A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype
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A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype

机译：一个有颅额鼻综合征和 EFNB1 基因突变（p.G151S）的家庭：扩大表型

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Craniofrontonasal syndrome (CFNS) is a rare genetic entity with X-linked dominant inheritance. CFNS is due to mutations in the Ephrin-B1 (EFNB1) gene. It is characterized by brachycephaly, frontonasal dysplasia, palate/lip defects, dental malocclusion, short neck, split nails, syndactyly, toe and finger defects, and minor skeletal defects. Intelligence is usually unaffected. CFNS exhibits unexpected manifestations between males and females as the latter are more affected. Cellular or metabolic interference due to X inactivation explains the more severe phenotype in heterozygous females. One family with several members affected with CFNS and 100 healthy controls were examined. DNA from leukocytes was isolated to analyze the EFNB1 gene. We did molecular modeling to assess the impact of the mutation on the EFNB1-encoded protein. DNA sequencing analysis of the EFNB1 gene of the affected members showed the heterozygous missense mutation c.451G>A in the EFNB1 gene (GRcH38, chrX: 68,839,708; GERP score in hg38 of 9.961). This transition mutation resulted in the substitution of Gly at position 151 by Ser. Analysis of the healthy members of the family and 100 unrelated controls showed a normal sequence of the EFNB1 gene. Phenotypes of the patients in this family differ from the classical CFNS due to the decreased size of sulci and fissures, subarachnoid space and ventricles, and the absence of a cleft lip/palate.
机译：颅前鼻综合征（CFNS）是一种罕见的遗传实体，具有X连锁显性遗传。 CFNS是由于Ephrin-B1（EFNB1）基因突变所致。它的特征是头畸形，额鼻发育异常，上颚/嘴唇缺损，错牙合畸形，短脖子，指甲裂，综合征，脚趾和手指缺损以及轻微的骨骼缺损。智力通常不受影响。 CFNS在男性和女性之间表现出意想不到的表现，因为后者受影响更大。 X失活引起的细胞或代谢干扰解释了杂合雌性中更严重的表型。研究了一个有数名受CFNS影响的家庭和100名健康对照者。从白细胞中分离出DNA来分析EFNB1基因。我们进行了分子建模，以评估突变对EFNB1编码蛋白的影响。受影响成员的EFNB1基因的DNA测序分析显示EFNB1基因中的杂合错义突变c.451G> A（GRcH38，chrX：68,839,708;在hg38中的GERP评分为9.961）。该过渡突变导致在151位的Gly被Ser取代。对家庭健康成员和100位无关亲戚的分析显示，EFNB1基因的序列正常。该家族患者的表型与传统的CFNS不同，这是由于龈沟和裂隙的尺寸减小，蛛网膜下腔和脑室的减小，以及唇/裂不存在。

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