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Article

Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.

Clinical genetics - 1 Feb 2022

Wood Katherine A, Ellingford Jamie M, Thomas Huw B, Douzgou Sofia, Beaman Glenda M, Hobson Emma, Prescott Katrina, O'Keefe Raymond T, Newman William G

Abstract excerpt

The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by biallelic variants in the pre-messenger RNA splicing factor TXNL4A. Most patients have a loss-of-function variant in trans with a 34-base pair (bp) deletion (type 1 Δ34) in the promoter region. Here, we identified two patients with BMKS. One individual has a TXNL4A...

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PMID: 34713892
DOI: 10.1111/cge.14082

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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