1. High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
- Author
-
Lerat J, Bonnet C, Cartault F, Loundon N, Jacquemont ML, Darcel F, Rouillon I, Mezouaghi K, Guichet A, Litzler J, Gesny R, Gherbi S, Aissa IB, Digeon FSJ, Garabedian EN, Bonnefont JP, Genin E, Denoyelle F, Jonard L, and Marlin S
- Subjects
- Animals, Bilateral Vestibulopathy diagnostic imaging, Bilateral Vestibulopathy physiopathology, Deafness diagnostic imaging, Deafness physiopathology, Electroretinography, Female, Frameshift Mutation genetics, Homozygote, Humans, Infant, Male, Mice, Motor Disorders diagnostic imaging, Motor Disorders physiopathology, Pedigree, Tomography, X-Ray Computed, Exome Sequencing, Bilateral Vestibulopathy genetics, Deafness genetics, Membrane Proteins genetics, Motor Disorders genetics
- Abstract
Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the mainland France. Twelve children having isolated bilateral prelingual profound deafness along with motor delay attributed to vestibular areflexia were enrolled. Their mean walking age was 19 months. Electroretinography and temporal bone CT-scans were normal in all cases. A novel homozygous frameshift lipoma HMGIC fusion partner-like 5 (LHFPL5) variant c.185delT p.(Phe62Serfs*23) was identified using whole-exome sequencing. It was found in seven families. Four patients from two different families from both Reunion Island and mainland France, were compound heterozygous: c.185delT p.(Phe62Serfs*23) and c.472C > T p.(Arg158Trp). The phenotype observed in our patients completely mimics the hurry-scurry (hscy) murine Tmhs knock-out model. The recurrent occurrence of same LHFPL5 variant in Reunion Island is attributed to common ancestor couple born in 1693., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2019
- Full Text
- View/download PDF