PDF(Pubmed)
Abstract：
UNASSIGNED: To describe the demographic distribution of cystic fibrosis (CF) in Omani children, estimate the national prevalence, and provide updated mutational panels of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
UNASSIGNED: We conducted a retrospective cross-sectional study of all CF patients who had been diagnosed and followed-up at Sultan Qaboos University Hospital and Royal Hospital in Oman between 2006 and 2020. Data were collected from electronic hospital records and telephone interviews.
UNASSIGNED: A total of 227 patients with CF were included in the study. Geographical clusters of the disease were identified in the governorates of Al-Batinah, A\'Dhahirah, and A\'Dakhiliyah. Parental consanguinity and family history of CF were present in 68.3% and 69.6% of the patients, respectively. The most common CFTR mutation was p.Ser549Arg (52.0%), followed by p.Phe508del (12.3%), and c.2988+1G>A (4.4%). Three novel CFTR mutations were identified, viz., Leu88TyrFs*, p.Asp192Val, and c.4242+1G>C.
UNASSIGNED: The estimated prevalence of CF in Oman is 10.3 per 100 000 individuals. Premarital genetic counseling and preimplantation genetic testing are recommended in CF-prevalent regions.
UNASSIGNED: We conducted a retrospective cross-sectional study of all CF patients who had been diagnosed and followed-up at Sultan Qaboos University Hospital and Royal Hospital in Oman between 2006 and 2020. Data were collected from electronic hospital records and telephone interviews.
UNASSIGNED: A total of 227 patients with CF were included in the study. Geographical clusters of the disease were identified in the governorates of Al-Batinah, A\'Dhahirah, and A\'Dakhiliyah. Parental consanguinity and family history of CF were present in 68.3% and 69.6% of the patients, respectively. The most common CFTR mutation was p.Ser549Arg (52.0%), followed by p.Phe508del (12.3%), and c.2988+1G>A (4.4%). Three novel CFTR mutations were identified, viz., Leu88TyrFs*, p.Asp192Val, and c.4242+1G>C.
UNASSIGNED: The estimated prevalence of CF in Oman is 10.3 per 100 000 individuals. Premarital genetic counseling and preimplantation genetic testing are recommended in CF-prevalent regions.
摘要：
未经评估：为了描述阿曼儿童囊性纤维化（CF）的人口统计学分布，估计全国流行率，并提供囊性纤维化跨膜传导调节因子（CFTR）基因的最新突变组。
UNASSIGNED：我们对2006年至2020年在阿曼苏丹卡布斯大学医院和皇家医院诊断和随访的所有CF患者进行了回顾性横断面研究。数据来自电子医院记录和电话采访。
未经证实：本研究共纳入227例CF患者。在巴蒂纳省确定了该疾病的地理集群，A\'Dhahirah,和A\'Dakhiliyah。父母血缘关系和CF家族史分别为68.3%和69.6%。分别。最常见的CFTR突变是p.Ser549Arg(52.0%),其次是p.Phe508del（12.3%），和c.2988+1G>A（4.4%）。确定了三个新的CFTR突变，viz.,Leu88TyrFs*,p.Asp192Val,c.4242+1G>C.
未经评估：估计在阿曼的CF患病率为每10万人10.3。建议在CF流行地区进行婚前遗传咨询和植入前遗传检测。
UNASSIGNED：我们对2006年至2020年在阿曼苏丹卡布斯大学医院和皇家医院诊断和随访的所有CF患者进行了回顾性横断面研究。数据来自电子医院记录和电话采访。
未经证实：本研究共纳入227例CF患者。在巴蒂纳省确定了该疾病的地理集群，A\'Dhahirah,和A\'Dakhiliyah。父母血缘关系和CF家族史分别为68.3%和69.6%。分别。最常见的CFTR突变是p.Ser549Arg(52.0%),其次是p.Phe508del（12.3%），和c.2988+1G>A（4.4%）。确定了三个新的CFTR突变，viz.,Leu88TyrFs*,p.Asp192Val,c.4242+1G>C.
未经评估：估计在阿曼的CF患病率为每10万人10.3。建议在CF流行地区进行婚前遗传咨询和植入前遗传检测。
