Mutational analysis of hemophilia B in Russia: Molecular-genetic study

Surin, V. L.; Demidova, Ekaterina; Selivanova, D. S.; Luchinina, Yu. A.; Salomashkina, V. V.; Pshenichnikova, O. S.; Лихачева, Е. А.

doi:10.1134/s1022795416040116

Cited by 6 publications

(4 citation statements)

References 26 publications

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“…The databases that record HB mutations indicate a total of 1095 mutations corresponding to 3713 cases. According to some studies (Rallapalli et al 2013;Surin et al 2016;Morteza et al 2007;Nazia et al 2008;Pei-Chin et al 2014;Morteza et al 2009;Tengguo et al 2014), point mutations are the most common alterations in HB, and present in almost 90% of patients, whose largest proportion of patients with HB have missense mutations, which is in agreement with our results, missense mutations were identified for 6 of 11 families.…”

Section: Functional Regionsupporting

confidence: 91%

Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene

Abla

Yahia

Hejer³

et al. 2018

Biodiversitas

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Abla Z, Mouloud Y, Hejer El, Emna G, Abdi Meriem A, Ouarhlent Yamina O, Naouel S. 2018. Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene. Biodiversitas 19: 52-58. Hemophilia B (HB) (also known as Christmas disease; Christmas is the family name of the first patient.) is an X linked recessive hemorrhagic disorder caused by mutations in factor 9 (F9: is used for the gene) gene that leads to deficient or defective coagulation factor IX (FIX: is used for the protein). The variable phenotype of HB results from wide range of mutations affecting the F9 gene. Our study was aimed at molecular analysis of HB to identify the causative mutation in known patients with HB in a part of Algeria. For genotyping, polymerase chain reaction (PCR) and direct sequencing have been applied to all the essential regions of the F9 gene from 39 Algerian HB patients belonging to 13 unrelated families. We identified 10 different mutations. The identified mutations included 1 duplication and 9 substitutions. In total 9 point mutations were identified, of which 5 are located in exon 8, the hotspot region in the F9 gene. Among the 10 mutations, 2 are novel and not deposited in database sites nor described in recently published articles. The results of this study emphasize the heterogeneity of HB. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.

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Section: Functional Regionsupporting

confidence: 91%

Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene

Abla

Yahia

Hejer³

et al. 2018

Biodiversitas

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“…Point mutations are the most common gene defect and are present in approximately 90% of HB patients (Nazia et al, 2008). This findings concurs with a number of other studies (Bowen, 2002;Morteza et al, 2009;Rallapalli et al, 2013;Pei-Chin et al, 2014;Tengguo et al, 2014;Surin et al, 2016). The majority of point mutations that have been reported in HB patients are missense and nonsense (Nazia et al, 2008).…”

Section: Resultssupporting

confidence: 91%

Molecular genetic study of hemophilia B in an Algerian population

Abla¹,

Yahia²,

Ouarhlent³

et al. 2016

Afr. J. Biotechnol.

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Hemophilia B is inherited as x-linked recessive disorder, carried by females, where males are affected. Rare cases of females affected with hemophilia B are known. This is also known as factor IX (FIX) deficiency, or "Christmas disease", originally named after Stephen Christmas; the first patient was described with this disease in 1952. It is characterized by spontaneous or prolonged hemorrages due to factor IX deficiency. Factor IX mutations have not been previously reported in Algerian patients. To understand the molecular basis of hemophilia B in Algeria, polymerase chain reaction (PCR) and direct sequencing have been applied to be the important regions of the factor IX gene from 11 patients; we identified 2 point mutations. Mutations identified in our patients was linked with disease severity. Complications are problems that develop during treatment of the disease. Inhibitor (alloantibodies to exogenous factor XI) development is currently the most significant treatment complication. In this study, we evaluated the relationship between inhibitor development and FIX gene mutation types. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.

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“…Mutational screening of F9 gene in eleven clinically diagnosed Egyptian hemophilia-B patients and carrier mothers revealed four point mutations including two missense and two nonsense mutations that were correlating with phenotypic severity within the studied patients. Up to November 2018, the F9 gene mutation database (EAHD Coagulation Factor Variant Databases) has recorded a total of 1094 mutations in 3713 HB patients [7], more than 3940 unique mutations have been reported so far in HGMD, 2020 [6]; point mutations accounts for 73.1% and mutations within the serine protease domain (SPD) account for about 56.1% among different populations [5,[8][9][10][11][12][13][14][15][16][17]. In agreement with that, all the detected mutations within our studied cohort were point mutations, three out of four detected mutations are within the protease domain, the greater part of codons (280-451) coded by the largest exon in the F9 gene (exon 8).…”

Section: Discussionmentioning

confidence: 99%

“…We identified one missense mutation (NM_000133.3: c.676C>G; NP_000124.1: p.Arg226Gly) located in exon 6 in two HB patients (patients 1 and 2) who clinically presented with moderate phenotype. However, severe and moderate forms of the disease resulting from this mutation have been reported earlier in different populations like China, Turkey, and France [18][19][20]; this might be attributed to different ethnic backgrounds [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21].…”

Section: Discussionmentioning

confidence: 99%

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

El‐Kamah

Mosaad²,

Taher

et al. 2021

Journal of Genetic Engineering and Biotechnology

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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.

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Mutational analysis of hemophilia B in Russia: Molecular-genetic study

Cited by 6 publications

References 26 publications

Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene

Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene

Molecular genetic study of hemophilia B in an Algerian population

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

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