A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome

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A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome

机译：与Buschke-Ollendorff综合征的家庭新致病变种的报告

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Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3 . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a heterozygous frameshift pathogenic variant in both the affected family members. Besides the phenotypic description, this report highlights the need for a comprehensive evaluation in connective tissue disorders and the importance of genotype-phenotype correlation in BOS.

机译：Buschke-ollendorf综合征（BOS）是一种由LEMD3的致病性突变引起的良性常血糖显性障碍。在这里，我们描述了被诊断患有与BOS相关的各种表型的家庭。 LEMD3的单一基因检测在受影响的家庭成员中检测到杂合的框致病变体。除了表型描述之外，该报告突出了结核组织疾病中综合评价的需要以及博斯中基因型 - 表型相关性的重要性。

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《Progress in Artificial Intelligence》 |2020年第1期|共3页
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正文语种 eng
中图分类计算技术、计算机技术;
关键词
familial Buschke-Ollendorf syndrome; osteopoikilosis; collagenoma; LEMD3;

机译：家族布奇克-OLLENDORF综合征;骨质虫;胶原瘤;LEMD3;

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1. A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome [J] . Progress in Artificial Intelligence . 2020,第1期

机译：与Buschke-Ollendorff综合征的家庭新致病变种的报告
2. A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report [J] . Tan Hu, Wei Xianda, Yang Pu, Familial cancer . 2017,第3期

机译：Peutz-Jeghers综合征的报告致病变异的一课：案例报告
3. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports [J] . Katja Kloth, Matthis Synofzik, Christoph Kernstock, BMC Medical Genetics . 2019,第1期

机译：在非综合征性常染色体隐性视神经萎缩症中发现的TMEM126A中新的可能的致病变异：2例病例报告
4. The Clinical Report On Long QT Syndrome from 46 Chinese Families [C] . CX. Li, D.Y. Hu, X.G. Qin, World Congress on Cardiac Pacing and Electrophysiology . 2003

机译：来自46名中国家庭的LONG QT综合征的临床报告
5. Medical Decision Making among Individuals with a Variant of Uncertain Significance in a Hereditary Cancer Gene and those with a CHEK2 Pathogenic Variant [D] . Almanza, Deanna J. 2019

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6. A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome [O] . Angita Jain, Pavalan Selvam, Herjot Atwal, 2020

机译：具有Buschke-Olledorff综合征的家庭新致病变种的报告
7. Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants [O] . Belinda Gray, Can Hasdemir, Jodie Ingles, 2018

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A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome

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