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首页> 外文期刊>Annals of Human Genetics >A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family
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A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

机译：FGD4 / FRABIN的新型突变导致血缘突尼斯家庭患者患夏科特玛丽牙齿疾病4H型

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Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness, deformation of the feet, and loss of deep tendon reflexes. CMT4H is an autosomal recessive demyelinating subtype of CMT, due to mutations in FGD4/FRABIN, for -which nine mutations are described to date. In this study, we describe three patients from a consanguineous Tunisian family, presenting with severe, early onset, slowly progressive, autosomal recessive demyelinating CMT, complicated by mild to severe kyphoscoliosis, consistent with CMT4H. In these patients, we report the identification of a novel homo2ygous frameshift mutation in FGD4: c.514_51f>insG; p.Alal72Glyfs*27. Our study reports the first mutation identified in FGD4 in Tunisian patients affected with CMT. It further confirms the important clinical heterogeneity observed in patients with mutations in FGD4 and the lack of phenotype/genotype correlations in CMT4H. Our results suggest that FGD4 should be screened in other early-onset CMT subtypes, regardless of the severity of the phenotype, and particularly in patients of consanguineous descent. In Tunisians, as in other populations with high consanguinity- rates, screening of genes responsible for rare autosomal recessive CMT subtypes should be prioritized.
机译：Charcot-Marie-Tooth（Chart-Marie-Tooth，简称CMT）疾病是遗传性神经病的临床和遗传异质性组，其特征是远端肢体进行性肌肉和感觉丧失，伴有慢性远端无力，脚变形和深腱反射消失。由于FGD4 / FRABIN中的突变，CMT4H是CMT的常染色体隐性脱髓鞘亚型，迄今为止已描述了9种突变。在这项研究中，我们描述了来自突尼斯近亲家庭的三名患者，他们表现为重度，早期发作，缓慢进展，常染色体隐性脱髓鞘性CMT，并伴有轻度至重度后凸性脊柱侧凸，与CMT4H一致。在这些患者中，我们报告了在FGD4中新的同型移码突变的鉴定：c.514_51f> insG; p.Alal72Glyfs * 27。我们的研究报告了突尼斯人受CMT影响的FGD4中第一个突变。它进一步证实了在FGD4突变患者中观察到的重要临床异质性，以及CMT4H中缺乏表型/基因型相关性。我们的结果表明，无论表型的严重程度如何，都应在其他早期发作的CMT亚型中筛查FGD4，尤其是在血缘下降的患者中。在突尼斯人中，与其他高血缘率人群一样，应优先筛查罕见的常染色体隐性CMT亚型的基因。

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