两个因MATN3的vWFA结构域复合杂合而导致脊柱外胚层-骺软骨发育不良的家族

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2024-09-16 DOI:10.1016/j.ejmg.2024.104972

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引用次数: 0

摘要

MATN3 杂合子变异是多发性骺发育不良（MED）的常见病因之一。在这里，我们报告了来自两个无血缘关系家庭的三个人，他们都携带 MATN3 的复合杂合子变异（p.Arg121Trp 和 p.Val220Ala）。与 MED 表型相反，这些人表现出脊柱软骨骺发育不良（SEMD），与同源 MATN3 变体引起的表型相似。临床表现包括身材矮小、畸形加重、关节松弛和脊柱异常。放射学检查结果与典型的 MED 截然不同。MATN3 的 von Willebrand 因子 A 结构域中的这些复合杂合子变异扩大了与 MATN3 相关的表型谱，并表明双重变异导致的极端 MATN3 功能障碍可导致特定模式的 SEMD。

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Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3

Heterozygous variants of MATN3 is one of the common causes of multiple epiphyseal dysplasia (MED). Here we report three individuals from two unrelated families who harbor compound heterozygous variants in MATN3 (p.Arg121Trp and p.Val220Ala). Contrary to the MED phenotype, these individuals exhibit spondyloepimetaphyseal dysplasia (SEMD) resembling the phenotypes caused by homozygous MATN3 variants. Clinical manifestations included short stature, aggravating genu varum, joint laxity, and spinal abnormalities. Radiographic findings were distinct from typical MED. These compound heterozygous variants in the von Willebrand factor A domain of MATN3 expand the phenotypic spectrum associated with MATN3, and suggest that extreme MATN3 dysfunction resulting from dual variants can lead to a specific pattern of SEMD.

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.