Publications by authors named "Imane Ait Raise"
SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin Sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined.
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- The primary cause of congenital hearing loss is mostly genetic, with the GJB2 gene being crucial across different ethnicities.
- A study involving Sanger sequencing analyzed GJB2 in 17 deaf children from 13 families in Ivory Coast, discovering pathogenic variants in one family with two deaf children.
- The identified variants included a known nonsense substitution and a new 7-base pair duplication, marking the first report of GJB2 involvement in congenital hearing loss within an Ivorian family.
Article Synopsis
- - The study highlights the significance of WHRN gene variants, which are linked to non-syndromic hearing loss and Usher syndrome type II, a condition affecting both hearing and vision.
- - Researchers conducted exome sequencing on a Moroccan patient with severe hearing loss, revealing a specific mutation (c.619G > T; p.Ala207Ser) in the WHRN gene, crucial for binding protein complexes in ear and eye cells.
- - Bioinformatics analysis and molecular modeling suggest that this mutation may alter the structure of the WHRN protein, potentially explaining the patient's hearing impairment.
One of the most prevalent sensorineural disorders, autosomal recessive non-syndromic hearing loss (ARNSHL) which can affect all age groups, from the newborn (congenital) to the elderly (presbycusis). Important etiologic, phenotypic, and genotypic factors can cause deafness. So far, the high genetic variability that explains deafness makes molecular diagnosis challenging.
View Article and Find Full Text PDFBackground: Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the cochlear nerve or central auditory perception. The genetic causes are the most common, as approximately 70% of hearing disorders are of hereditary origin, divided into two groups, syndromic (associated with other symptoms) and no syndromic (isolated deafness).
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