Congenital Heart Defect

Gene: TXNL4A

Green List (high evidence)

Well established gene-disease association, CHD is part of the phenotype. Note common UTR variant.

Created: 22 Nov 2023, 5:02 a.m. | Last Modified: 22 Nov 2023, 5:02 a.m.

Panel Version: 0.362

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Burn-McKeown syndrome - MIM#608572

I don't know

Homozygous or compound heterozygous mutation in the TXNL4A gene are associated to Burn-McKeown syndrome (BMKS). BMKS is a rare disorder in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears (Wieczorek et al 2014 - PMID 25434003).

Wieczorek et al (2014 - PMID: 25434003) report 9 families presenting individuals with BMKS and harboring biallelic variants in the TXNL4A gene. Four unrelated individuals presented cardiac defects.

Goos et al (2017 - PMID: 28905882) report an individual with BMKS including asymptomatic atrial and ventricular septal defects, and harboring biallelic variants in the TXNL4A gene.
Sources: Literature

Created: 18 Nov 2023, 10:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Burn-McKeown syndrome - MIM#608572

Publications

• 25434003
• 28905882