Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.

Am J Med Genet A. 2020 Jun;182(6):1313-1315. doi:10.1002/ajmg.a.61554. Epub 2020 Mar 18

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摘要

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.

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Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.

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