This study aimed to investigate GJB2 (MIM: 121011) and GJB6 (MIM: 604418) variants associated wit... more 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. The mean age at the medical diagnosis of the affected individuals was 2.93 ± 2.53 years [range: 1–15 years]. Consanguinity was present in 40 out of 53 families (75.47%). Variants in GJB2 explained HI in 34.1% (n = 15/44) of multiplex families. A bi-allelic pathogenic variant, GJB2: c.94C>T: p.(Arg32Cys) accounted for 25% (n = 11/44 families) of familial cases, of which 80% (n = 12/15) were consanguineous. Interestingly, the previously reported “Ghanaian” founder variant, G...
Founder mutations have been reported inBRCA1andBCRA2in different ethnic groups with inherited bre... more Founder mutations have been reported inBRCA1andBCRA2in 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. The pathogenic variant c.815_824dup ofBRCA1has been reported as the most frequent among African American populations with inherited breast cancer and was supposed to have a West African origin. Recent report from Senegal identified this variant in women with inherited breast cancer at the highest frequency ever reported. The variant was linked to a common haplotype confirming its founder effect in West Africa. In this article, we review the mutation history of c.815_824dup and discuss how it spread out of Africa through the transatlantic slave trade.
New information and communication technologies have led to the emergence of new techniques in our... more New information and communication technologies have led to the emergence of new techniques in our daily lives. Indeed, in topography, a lightning development of new techniques and new devices has been noticed. This development has given rise to a multitude of choices of devices and various classes of precision. This implies that the decision-makers have to study the adequate equipment and the appropriate technique according to the topographic task to be realized. The objective is not to compare GNSS and topographic techniques, but to point out the contribution of the Global Navigation Satelite System (GNSS) techniques of topographic work. Thus, a theoretical study with a critical eye on the scientific principle of calculating the third topographic dimension followed by a leveling campaign, Real Time Kinematic (RTK) surveys will be used in order to be able to compare and interpret the result from these campaigns. The study of the difference resulting from the practical campaigns will...
We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 15/44) o... more We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 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. Participants with early onset HI were included after clinical examination, including audiological assessment by pure tone audiometry and/or auditory brainstem response. We investigated a total of 406 participants from 295 families, recruited from 13/14 administrative regions of Senegal. Male/female ratio was 1.33 (232/174). Prelingual HI was the most common type of HI and accounted for 80% (n = 325 individuals). The mean age at medical diagnosis for congenital HI was computed at 3.59 ± 2.27 years. Audiological evaluation showed sensorineural HI as the most frequently observed HI (89.16%; n = 362 individuals). Pedigree analysis suggested autosomal recessive inheritance in 61.2% (63/103) of multiplex familie...
This study aimed to investigate GJB2 (MIM: 121011) and GJB6 (MIM: 604418) variants associated wit... more 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. The mean age at the medical diagnosis of the affected individuals was 2.93 ± 2.53 years [range: 1–15 years]. Consanguinity was present in 40 out of 53 families (75.47%). Variants in GJB2 explained HI in 34.1% (n = 15/44) of multiplex families. A bi-allelic pathogenic variant, GJB2: c.94C>T: p.(Arg32Cys) accounted for 25% (n = 11/44 families) of familial cases, of which 80% (n = 12/15) were consanguineous. Interestingly, the previously reported “Ghanaian” founder variant, G...
Founder mutations have been reported inBRCA1andBCRA2in different ethnic groups with inherited bre... more Founder mutations have been reported inBRCA1andBCRA2in 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. The pathogenic variant c.815_824dup ofBRCA1has been reported as the most frequent among African American populations with inherited breast cancer and was supposed to have a West African origin. Recent report from Senegal identified this variant in women with inherited breast cancer at the highest frequency ever reported. The variant was linked to a common haplotype confirming its founder effect in West Africa. In this article, we review the mutation history of c.815_824dup and discuss how it spread out of Africa through the transatlantic slave trade.
New information and communication technologies have led to the emergence of new techniques in our... more New information and communication technologies have led to the emergence of new techniques in our daily lives. Indeed, in topography, a lightning development of new techniques and new devices has been noticed. This development has given rise to a multitude of choices of devices and various classes of precision. This implies that the decision-makers have to study the adequate equipment and the appropriate technique according to the topographic task to be realized. The objective is not to compare GNSS and topographic techniques, but to point out the contribution of the Global Navigation Satelite System (GNSS) techniques of topographic work. Thus, a theoretical study with a critical eye on the scientific principle of calculating the third topographic dimension followed by a leveling campaign, Real Time Kinematic (RTK) surveys will be used in order to be able to compare and interpret the result from these campaigns. The study of the difference resulting from the practical campaigns will...
We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 15/44) o... more We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 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. Participants with early onset HI were included after clinical examination, including audiological assessment by pure tone audiometry and/or auditory brainstem response. We investigated a total of 406 participants from 295 families, recruited from 13/14 administrative regions of Senegal. Male/female ratio was 1.33 (232/174). Prelingual HI was the most common type of HI and accounted for 80% (n = 325 individuals). The mean age at medical diagnosis for congenital HI was computed at 3.59 ± 2.27 years. Audiological evaluation showed sensorineural HI as the most frequently observed HI (89.16%; n = 362 individuals). Pedigree analysis suggested autosomal recessive inheritance in 61.2% (63/103) of multiplex familie...
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