Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.

Autor: El-Kamah GY; Clinical Genetics Department, Human Genetics and Genome Research division (HGGR), National Research Centre (NRC), Cairo, Egypt., Mosaad RM; Molecular Genetics and Enzymology Department, HGGR, NRC, El Buhouth St., Dokki, Cairo, Egypt. drrehabmosaad@gmail.com., Taher MB; Clinical Genetics Department, Human Genetics and Genome Research division (HGGR), National Research Centre (NRC), Cairo, Egypt., Amr KS; Medical Molecular Genetics, HGGR, NRC, Cairo, Egypt.
Jazyk: angličtina
Zdroj: Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2021 May 17; Vol. 19 (1), pp. 75. Date of Electronic Publication: 2021 May 17.
DOI: 10.1186/s43141-021-00165-8
Abstrakt: Background: 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.
Results: 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.
Conclusions: 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.
Databáze: MEDLINE
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