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

Dhanya L. Narayanan, Greeshma Purushothama, Gandham S.L. Bhavani, Anju Shukla

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusPublished - 01-06-2020

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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