Childhood Hearing Impairment in Senegal.

We recently showed that variants in explained Hearing Impairment (HI) in 34.1% ( = 15/44) of multiplex families in Senegal. The present study aimed to use community-based nationwide recruitment to determine the etiologies and the clinical profiles of childhood HI in Senegal.

Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal.

This study aimed to investigate GJB2 (MIM: 121011) and GJB6 (MIM: 604418) variants associated with familial non-syndromic hearing impairment (HI) in Senegal. We investigated a total of 129 affected and 143 unaffected individuals from 44 multiplex families by segregating autosomal recessive non-syndromic HI, 9 sporadic HI cases of putative genetic origin, and 148 control individuals without personal or family history of HI. The DNA samples were screened for GJB2 coding-region variants and GJB6-D3S1830 deletions.

New Insights Into c.815_824dup Pathogenic Variant of in Inherited Breast Cancer: A Founder Mutation of West African Origin.

Founder mutations have been reported in and in different ethnic groups with inherited breast cancer. Testing of targeted mutations in specific populations is important for cancer prevention in mutation carriers. In Sub-Saharan Africa, only a few studies have reported specific founder mutations in inherited breast cancer.