PDF(Pubmed)
Abstract：
Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The MYF5 gene located on chromosome 12 encodes for myogenic factor 5 (MYF5), which has a role in skeletal and extraocular muscle development and rib formation. Variants in MYF5 were found to cause external ophthalmoplegia with rib and vertebral anomalies (EORVA), a rare recessive condition. To date, three homozygous variants in MYF5 have been reported to cause EORVA in six members of four unrelated families. Here, we present a novel homozygous MYF5 frameshift variant, c.596dupA p. (Asn199Lysfs*49), causing premature protein termination and presenting with external ophthalmoplegia, ptosis, and scoliosis in three siblings from a consanguineous family of Pakistani origin. With four MYF5 variants now discovered, genetic testing and paediatric assessment for extra-ocular features should be considered in all cases of congenital ophthalmoplegia.
摘要：
具有碱性螺旋-环-螺旋（bHLH）的肌源性转录因子，如MYOD，Myogenin,MRF4和MYF5有助于肌肉分化和调节。位于12号染色体上的MYF5基因编码生肌因子5（MYF5），在骨骼和眼外肌发育和肋骨形成中起作用。发现MYF5变异可导致外眼肌麻痹伴肋骨和椎骨异常（EORVA），一种罕见的隐性疾病。迄今为止,据报道,MYF5中的三个纯合变体在四个无关家族的六个成员中引起EORVA.这里,我们提出了一个新的纯合MYF5移码变体，c.596dupAp.（Asn199Lysfs*49），导致蛋白质过早终止并出现眼外肌麻痹，上睑下垂,和脊柱侧弯的三个兄弟姐妹来自一个巴基斯坦血统的近亲家庭。现在发现了四个MYF5变体，在所有先天性眼肌麻痹病例中,均应考虑对眼外特征进行基因检测和儿科评估.
