博斯玛假丝酵母小眼症综合征与 SMCHD1 基因新变异的临床报告。病例报告

IF 1.8 4区医学 Q4 ENDOCRINOLOGY & METABOLISM

Endocrinologia Diabetes Y Nutricion Pub Date : 2024-03-01 DOI:10.1016/j.endien.2024.03.011

José Atencia Goñi , María Orera Clemente , Mariano José Del Valle Diéguez , Laura González Fernández , Olga González Albarrán

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引用次数: 0

摘要

博斯玛综合征（BAMS：Bosma arhinia microphthalmia syndrome）是一种于 1972 年首次被描述的疾病。从那时起，有多篇综述文章发表了这些病例，以寻找诊断标准和相关的基因改变。SMCHD1 基因（含柔性铰链域的染色体结构维护蛋白 1）的突变似乎可以解释这种表型的部分形成原因。并非所有病例都表现出相同的改变或符合典型的诊断标准，很少有病例进行过基因分析。我们介绍了一例该基因新变异的病例，并更新了有关该综合征的文献，旨在改进对这些患者的诊断和随访。

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Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.

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来源期刊

Endocrinologia Diabetes Y Nutricion Multiple-

CiteScore

2.10

自引率

10.50%

发文量

期刊介绍： Endocrinología, Diabetes y Nutrición is the official journal of the Spanish Society of Endocrinology and Nutrition (Sociedad Española de Endocrinología y Nutrición, SEEN) and the Spanish Society of Diabetes (Sociedad Española de Diabetes, SED), and was founded in 1954. The aim of the journal is to improve knowledge and be a useful tool in practice for clinical and laboratory specialists, trainee physicians, researchers, and nurses interested in endocrinology, diabetes, nutrition and related disciplines. It is an international journal published in Spanish (print and online) and English (online), covering different fields of endocrinology and metabolism, including diabetes, obesity, and nutrition disorders, as well as the most relevant research produced mainly in Spanish language territories. The quality of the contents is ensured by a prestigious national and international board, and by a selected panel of specialists involved in a rigorous peer review. The result is that only manuscripts containing high quality research and with utmost interest for clinicians and professionals related in the field are published. The Journal publishes Original clinical and research articles, Reviews, Special articles, Clinical Guidelines, Position Statements from both societies and Letters to the editor. Endocrinología, Diabetes y Nutrición can be found at Science Citation Index Expanded, Medline/PubMed and SCOPUS.