El-Kamah Ghada Y, Mosaad Rehab M, Taher Mohamed B, Amr Khalda S
Clinical Genetics Department, Human Genetics and Genome Research division (HGGR), National Research Centre (NRC), Cairo, Egypt.
Molecular Genetics and Enzymology Department, HGGR, NRC, El Buhouth St., Dokki, Cairo, Egypt.
J Genet Eng Biotechnol. 2021 May 17;19(1):75. doi: 10.1186/s43141-021-00165-8.
Hemophilia B (HB) (also known as Christmas disease) is a rare X-linked recessive disorder characterized by spontaneous or prolonged hemorrhages caused by mutations in Factor 9 (F9) gene leading to deficient or defective coagulation F9. Our study aimed at identifying the causative mutations within a sample of HB Egyptian patients. The present study comprised clinical data of eleven HB patients descending from six unrelated families and a seventh family including a carrier mother with a history of deceased HB sibling. Sequencing of F9 gene was performed.
The study revealed four mutations; two missense NM_000133.3:c.676C>G, (P.Arg226Gly) and NM_000133.3:c.1305T>G, (p.Cys435Trp), and two nonsense mutations NM_000133.3:c.880C>T, (p.Arg294*) and NM_000133.3:c.1150C>T, (p.Arg384*), identified mutations spanned exons 6 and 8 of which a total of three mutations are located in hotspot exon 8 of F9 gene.
Reviewing the literature, this is the first molecular analysis of F9 gene in HB Egyptian patients. Consistent genotype/phenotypic severity correlation could be concluded, helping proper genetic counseling and prenatal decision taking.
乙型血友病（HB）（也称为克里斯马斯病）是一种罕见的X连锁隐性疾病，其特征是由于凝血因子9（F9）基因突变导致凝血因子9缺乏或缺陷，从而引起自发性出血或出血时间延长。我们的研究旨在确定埃及乙型血友病患者样本中的致病突变。本研究纳入了来自六个无血缘关系家庭的11名乙型血友病患者的临床数据，以及第七个家庭，该家庭包括一位有乙型血友病同胞死亡病史的携带者母亲。对F9基因进行了测序。
该研究发现了四个突变；两个错义突变NM_000133.3:c.676C>G（p.Arg226Gly）和NM_000133.3:c.1305T>G（p.Cys435Trp），以及两个无义突变NM_000133.3:c.880C>T（p.Arg294*）和NM_000133.3:c.1150C>T（p.Arg384*），所识别的突变跨越外显子6和8，其中共有三个突变位于F9基因的热点外显子8。
查阅文献可知，这是对埃及乙型血友病患者F9基因的首次分子分析。可以得出一致的基因型/表型严重程度相关性，有助于进行适当的遗传咨询和产前决策。
