Narayanan Dhanya L, Purushothama Greeshma, Bhavani Gandham Sl, Shukla Anju
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Am J Med Genet A. 2020 Jun;182(6):1313-1315. doi: 10.1002/ajmg.a.61554. Epub 2020 Mar 18.
Burn-McKeown syndrome (BMKS) (MIM# 608572) is a rare condition caused by biallelic variants in TXNL4A. BMKS is characterized by craniofacial dysmorphism, choanal atresia, and normal intellect in affected individuals. BMKS has overlapping clinical features with Treacher Collins syndrome. Till date, 15 families have been described with BMKS. Homozygosity or compound heterozygosity of promoter deletions and null variants in TXNL4A are known to cause most cases of BMKS. We describe the first Indian family with two siblings with BMKS and promoter type 2 deletion in homozygous state.
伯恩-麦基翁综合征（BMKS）（MIM# 608572）是一种由TXNL4A基因双等位基因变异引起的罕见病症。BMKS的特征是受影响个体出现颅面畸形、后鼻孔闭锁且智力正常。BMKS与特雷彻·柯林斯综合征有重叠的临床特征。迄今为止，已报道了15个患有BMKS的家庭。已知TXNL4A基因启动子缺失和无效变异的纯合性或复合杂合性会导致大多数BMKS病例。我们描述了首个印度家庭，该家庭中有两名患有BMKS的兄弟姐妹，且存在纯合状态的2型启动子缺失。
