The DMXL1 gene encodes a member of the WD repeat proteins superfamily. While WD repeat proteins generally have regulatory functions in the body, the function of the DMXL1 is not well understood as the protein has not been fully characterized. Based on ortholog genes, DMXL1 is suggested to be involved in vacuolar acidification and vacuolar proton-transporting V-type ATPase complex assembly.
The DMXL1 gene is located on the long arm of chromosome 5. It spans a length of 211.3 kb of DNA and its coding sequence is contained within 47 exons. The gene encodes a 337.8 kDa protein product composed of 3027 amino acids. DMXL1 is found to be expressed in the bone, breast, eye, foreskin, heart, parathyroid, small intestine, testis, tonsils, placenta and uterus.
Monies et al. (2017) analyzed the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 4-year-old male, presented with global developmental and speech delay, hypotonia, seizures, ptosis, optic disc edema, hypoplastic left heart, ureteropelvic junction obstruction, hydronephrosis and dysmorphic features. After a neuro-panel failed to identify a mutation, WES was carried out and a heterozygous mutation (c.4256delG, p.C1419fs) was detected in exon 18 of the patient’s DMXL1 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant that was predicted to be deleterious, and the gene had been implicated in the pathogenesis of 5q22.3q23.3 microdeletion syndrome. The authors noted the need for further confirmation of this association.
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