Abstract：
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM. Using whole-genome sequencing, we identified a de novo start-codon loss (c.3G > T) in the EFTUD2 We examined EFTUD2 expression in the patient by RNA sequencing and observed a notable functional consequence of the variant on gene expression in the patient. We identified a novel variant for the development of MFDM in humans. To the best of our knowledge, this is the first report of a start-codon loss in EFTUD2 associated with MFDM.
摘要：
伴有小头畸形的下颌骨骨发育不全（MFDM）是一种以常染色体显性遗传的罕见遗传疾病。主要特征包括发育迟缓，颅面畸形，如颌骨和下颌骨发育不全，耳朵异常。这里,我们报告了一名4.5岁女性患者，其症状符合MFDM。使用全基因组测序，我们在EFTUD2中发现了从头起始密码子丢失(c.3G>T)。我们通过RNA测序检查了患者的EFTUD2表达,并观察到该变体对患者基因表达的显著功能后果。我们确定了人类MFDM发展的新变体。据我们所知,这是与MFDM相关的EFTUD2起始密码子丢失的首次报道.
