Clinical and genetic characteristics of the first Russian patient with a syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs, caused by a mutation in the <i>PAX3</i> gene

Q4 Medicine
T. V. Markova, V. V. Mavlyukeeva, B. G. Ginzburg, O. A. Shchagina, S. S. Nikitin, E. L. Dadali
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引用次数: 0

Abstract

Craniofacial dysmorphia-deafness-anomalies of the upper limbs is a rare autosomal dominant syndrome caused by variants in the PAX3 gene. In contrast to the two main nosological forms – Waardenburg syndrome types 1 and 3, caused by variants in this gene, the syndrome of craniofacial dysmorphias-deafness-anomalies of the upper limbs is not characterized by the presence of hair hypopigmentation and heterochromia of the iris, while congenital contractures of the wrist and interphalangeal joints of the hands. There is a description in the literature of three patients from the same family with a syndrome caused by the c.141C>G(p.Asn47Lys) variant in the PAX3 gene. Aim of the work is to present the clinical and genetic characteristics of the first Russian patient with the syndrome of craniofacial dysmorphia-deafness-anomalies of the upper extremities. Molecular genetic analysis of a 1-year and 10-month-old proband with phenotypic signs of the syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs was carried out by direct automatic Sanger sequencing of the entire coding sequence of the PAX3 gene. Genotyping of parents was carried out by direct automatic sequencing according to Sanger. Sequencing was carried out on an ABIPrism3500хI instrument (Applied Biosystems) in accordance with the manufacturer’s protocol; primer sequences were selected according to the reference sequence of the target regions of the PAX3 gene (NM_181459.4). In Russian proband 1 year 10 months-old, the phenotypic characteristics of the syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs did not differ from the description of sick family members presented in the literature. A molecular genetic study revealed a heterozygous variant c.141C>G(p.Asn47Lys) in the PAX3 gene in the presented patient.
俄罗斯首例由pax3基因突变引起的颅面畸形-耳聋-上肢畸形综合征患者的临床和遗传特征;基因
颅面畸形-耳聋-上肢异常是一种罕见的常染色体显性综合征,由PAX3基因变异引起。与两种主要的疾病形式——Waardenburg综合征1型和3型(由该基因变异引起)相反,颅面畸形-耳聋-上肢异常综合征的特征不在于毛发色素沉着和虹膜异色,而在于腕部和手部指间关节的先天性挛缩。文献中有三例同一家族的患者,均为PAX3基因c.141C>G(p.Asn47Lys)变异所致综合征。该工作的目的是目前的临床和遗传特征的第一个俄罗斯患者颅面畸形-耳聋-上肢畸形综合征。采用PAX3基因全编码序列直接自动Sanger测序方法,对1岁10月龄具有颅面畸形-耳聋-上肢异常综合征表型体征的先证儿进行分子遗传学分析。采用Sanger自动测序法对亲本进行基因分型。测序在ABIPrism3500хI仪器(Applied Biosystems)上进行,按照制造商的方案;根据PAX3基因靶区的参考序列(NM_181459.4)选择引物序列。在俄罗斯1岁10个月大的先证儿童中,颅面畸形-耳聋-上肢异常综合征的表型特征与文献中患病家庭成员的描述没有差异。分子遗传学研究显示该患者的PAX3基因存在杂合变异c.141C>G(p.Asn47Lys)。
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来源期刊
Nervno-Myshechnye Bolezni
Nervno-Myshechnye Bolezni Medicine-Neurology (clinical)
CiteScore
0.50
自引率
0.00%
发文量
20
审稿时长
8 weeks
期刊介绍: The principal objective of the "Neuromuscular Diseases" journal is publication of state-of-art information about scientific clinical studies, diagnostics, and treatment of neurological diseases. "Neuromuscular Diseases" is a peer-reviewed journal, and members of its editorial board are major professionals in Russia and the CIS countries that have deserved authority not only in our country but abroad as well. Besides, leading scientists of Europe and the USA regularly cooperate with the journal. The journal regularly publishes reviews of modern literature references, proprietary clinical observations, lectures, original articles, results of research protocols in various areas of neuromuscular pathology - clinical presentation, diagnostics, medication, surgical and non-drug therapies, modern trends in drug rehabilitation, and recent drug developments. Due to international cooperation, the journal contains the newest therapeutic and diagnostic approaches to monitoring of patients with neuromuscular pathology.
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