Childhood Hearing Impairment in Senegal.
Childhood Hearing Impairment in Senegal.
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作者：
我们最近发现，GJB 2的变异解释了塞内加尔34.1%（n = 15/44）的多重家庭中的听力障碍（HI）。本研究的目的是利用社区为基础的全国范围内的招聘，以确定病因和临床资料的儿童HI在塞内加尔。早发性HI参与者在临床检查后纳入，包括通过纯音测听和/或听性脑干反应进行听力学评估。我们调查了来自295个家庭的406名参与者，他们来自塞内加尔的13/14个行政区。男性/女性比率为1.33（232/174）。语前HI是最常见的HI类型，占80%（n = 325）。先天性HI医学诊断的平均年龄计算为3.59 ± 2.27岁。听力学评估显示感音神经性HI是最常见的HI（89.16%; n = 362人）。家系分析表明，多发家系中61.2%（63/103）为常染色体隐性遗传，散发家系中27个（26.2%; 27/103）为常染色体隐性遗传，其中84个（93%）为近亲。遗传因素占52.7%（214/406），其次为环境因素（29.57%; 120/406）。72例（17.73%）病因不明。临床上，非综合征性HI是最常见的HI类型（90.6%; n = 194/214例）。在分离综合征病例的家族中，2型Waardenburg综合征最常见（36.3%; 4/11个家族）。这项研究揭示了推定的遗传因素，主要与高近亲结婚率，作为在塞内加尔早发HI的主要原因。高血缘关系可以提供一个很好的机会，以确定在已知的和新的基因参与儿童HI的变异。
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 families and sporadic cases in 27 families (26.2%; 27/103), with a consanguinity rate estimated at 93% (84/90 families). Genetic factors were likely involved in 52.7% (214/406) of the cases, followed by environmental causes (29.57%; 120/406). In 72 cases (17.73%), the etiology was unknown. Clinically, non-syndromic HI was the most common type of HI (90.6%; n = 194/214 individuals). Among families segregating syndromic cases, type 2 Waardenburg syndrome was the most common (36.3%; 4/11 families). This study revealed putative genetic factors, mostly associated with high consanguinity rate, as the leading causes of early-onset HI in Senegal. The high consanguinity could provide a good opportunity to identify variants in known and novel genes involved in childhood HI.
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影响因子：
3.7
作者：
Mazamay S;Guégan JF;Diallo N;Bompangue D;Bokabo E;Muyembe JJ;Taty N;Vita TP;Broutin H
通讯作者：
Broutin H
DOI：
10.15585/mmwr.mm6633a4
发表时间：
2017-08-25
期刊：
MMWR. Morbidity and mortality weekly report
影响因子：
--
作者：
Grosse SD;Riehle-Colarusso T;Gaffney M;Mason CA;Shapira SK;Sontag MK;Braun KVN;Iskander J
通讯作者：
Iskander J
影响因子：
3.7
作者：
Adadey, Samuel M.;Manyisa, Noluthando;Wonkam, Ambroise
通讯作者：
Wonkam, Ambroise
影响因子：
3.8
作者：
CANTRELLE, P
通讯作者：
CANTRELLE, P
DOI：
10.11604/pamj.2015.20.383.5230
发表时间：
2015
期刊：
The Pan African medical journal
影响因子：
--
作者：
Lebeko K;Bosch J;Noubiap JJ;Dandara C;Wonkam A
通讯作者：
Wonkam A