HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia

We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short bowel and asplenia, born to first‐cousin parents. Whole exome sequencing showed that both were homozygous for a missense variant, c.950A>C, predicting p.Asp317Ala, in the H.20‐Like Homeobox 1 (HLX1) gene. HLX is a homeobox transcription factor gene which is relatively conserved across species. Hlx homozygous null mice have a short bowel and reduced muscle cells in the diaphragm, closely resembling the anomalies in the two fetuses and we therefore suggest that the HLX mutation in this family could explain the fetal findings.

Source: American Journal of Medical Genetics Part A - September 1, 2017 Category: Genetics & Stem Cells Authors: Sandra A. Farrell, Sandi Sodhi, Christian R. Marshall, Andrea Guerin, Anne Slavotinek, Tara Paton, Karen Chong, Wilma L. Sirkin, Stephen W. Scherer, F élix‐Antoine Bérubé‐Simard, Nicolas Pilon Tags: CLINICAL REPORT Source Type: research