无关墨西哥患者Costello综合征的临床和分子特征。

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2022-04-01 DOI:10.1097/MCD.0000000000000405

Blanca E Ríos-González, Jessica F Rodríguez-Ortiz, Anna G Castro-Martínez, María T Magaña-Torres, Patricio Barros-Núñez

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引用次数: 1

摘要

本研究旨在首次描述一组墨西哥科斯特洛综合征患者。在13例临床怀疑为Costello综合征的患者的DNA样本中扩增了HRAS基因的5个外显子。PCR产物使用Ready Reaction Big Dye Terminator v.3.0 Kit和ABI PRISM 310测序仪进行测序。只有5例患者(38%)表现出HRAS基因密码子12的因果变异(4例为p.Gly12Ser变异，1例为p.Gly12Ala变异)。3例患者出现沉默型多态变异(p.His27His和p.l u159leu)。携带致病变异的患者的临床特征各不相同。在没有HRAS致病变异的患者中考虑心-面-皮综合征的替代诊断。

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Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.

This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS gene (four with the p.Gly12Ser and one with the p.Gly12Ala variant). Three patients showed silent polymorphic variants (p.His27His and p.Leu159Leu). Clinical features in patients carrying the causal variant were variable. The alternative diagnosis of cardio-facio-cutaneous syndrome was considered in patients who did not have a causative variant in HRAS.

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.