Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

doi:10.1016/j.ajhg.2014.10.014

Article

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

American journal of human genetics - 4 Dec 2014

Wieczorek Dagmar, Newman William G, Wieland Thomas, Berulava Tea, Kaffe Maria, Falkenstein Daniela, Beetz Christian, Graf Elisabeth, Schwarzmayr Thomas, Douzgou Sofia, Clayton-Smith Jill, Daly Sarah B, Williams Simon G, Bhaskar Sanjeev S, Urquhart Jill E, Anderson Beverley, O'Sullivan James, Boute Odile, Gundlach Jasmin, Czeschik Johanna Christina, van Essen Anthonie J, Hazan Filiz, Park Sarah, Hing Anne, Kuechler Alma, Lohmann Dietmar R, Ludwig Kerstin U, Mangold Elisabeth, Steenpaß Laura, Zeschnigk Michael, Lemke Johannes R, Lourenco Charles Marques, Hehr Ute, Prott Eva-Christina, Waldenberger Melanie, Böhmer Anne C, Horsthemke Bernhard, O'Keefe Raymond T, Meitinger Thomas, Burn John, Lüdecke Hermann-Josef, Strom Tim M

Abstract excerpt

Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g., Nager syndrome and mandibulofacial dysostosis type Guion-Almeida. The U5 spliceosomal complex of eight highly conserved proteins is critical for pre-mRNA splicing. We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). This rare...

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Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

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