先天性肌张力低下儿童COL6A1未分类变异1例报告。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2026-10-17 eCollection Date: 2026-10-01 DOI:10.1002/ccr3.73765

Khadeeja Nofal, Hamza M A Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta

引用次数: 0

摘要

我们报告一个3岁的男性先天性张力低下，近端挛缩，远端过度松弛。外显子组测序鉴定出一种新的纯合子COL6A1变异（c.2821C>T），归类为不确定意义的变异。独特的表型强烈支持乌尔里希先天性肌营养不良症，扩大基因的突变谱在近亲人群。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report.

We report a 3-year-old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous COL6A1 variant (c.2821C>T), classified as a variant of uncertain significance. The distinct phenotype strongly supports Ullrich congenital muscular dystrophy, expanding the gene's mutational spectrum in consanguineous populations.

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).