MYT1 role in the microtia-craniofacial microsomia spectrum.,Molecular Genetics & Genomic Medicine

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MYT1 role in the microtia-craniofacial microsomia spectrum.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-09-01 , DOI: 10.1002/mgg3.1401
Daniela V Luquetti _{1,

2} , Carrie L Heike _{1,

2} , Ignacio Zarante _{3,

4} , Andrew E Timms ₂ , Jonas Gustafson ₂ , Harry Pachajoa ₅ , Gloria L Porras-Hurtado ₆ , Paola Ayala-Ramirez ₃ , Milagros M Duenas-Roque ₇ , Natalia Jimenez ₈ , Lina M Ibanez ₈ , Paula Hurtado-Villa ₈

Affiliation

Craniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, and renal abnormalities. The etiology of CFM is largely unknown. The MYT1 gene has been reported as a candidate based in mutations found in three unrelated individuals. Additional patients with mutations in this gene are required to establish its causality. We present two individuals with CFM that have rare variants in MYT1 contributing to better understand the genotype and phenotype associated with mutations in this gene.

中文翻译：

MYT1在小口琴-颅面微粒体谱中的作用。

颅面微粒体症（CFM），也称为眼-耳-椎-椎体频谱，具有可变的表型，最常见的特征包括一侧或两侧的小口畸形和下颌骨发育不全，此外还有外侧口腔裂、,上皮样皮样，心脏，椎骨和肾脏异常。CFM的病因很大程度上未知。该MYT1基因已被报告为基础的突变候选人在三个无关个体中发现。该基因突变的其他患者需要确定其因果关系。我们介绍了两个具有CFM的个体，它们在MYT1中具有罕见的变异，有助于更好地了解与该基因突变相关的基因型和表型。

更新日期：2020-10-12

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