Ten novel factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore

Abdul-Ghafar, A.; Bogdanova, Nadja; Lim, Lay-Cheng; Zhao, Yongxiang; Markoff, Arseni; Tien, Sim Leng

doi:10.1111/j.1365-2516.2009.02146.x

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…The other changes observed at the same position are arginine to leucine [8] predominantly giving rise to severe phenotype, proline, whereas a change to glutamine has been noted in mild/moderate cases. Although in most cases a protein truncation gives rise to a severe clinical manifestation, a moderate case with this same change was reported in the HADB database [8], [18].…”

Section: Discussionmentioning

confidence: 84%

Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India

et al. 2014

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Despite increased awareness and diagnostic facilities, 70–80% of the haemophilia A (HA) patients still remain undiagnosed in India. Very little data is available on prevalent mutations in HA from this country. We report fifty mutations in seventy one Indian HA patients, of which twenty were novel. Ten novel missense mutations [p.Leu11Pro (p.Leu-8Pro), p.Tyr155Ser (p.Tyr136Ser), p.Ile405Thr (p.Ile386Thr), p.Gly582Val (p.Gly563Val) p.Thr696Ile (p.Thr677Ile), p.Tyr737Cys (p.Tyr718Cys), p.Pro1999Arg (p.Pro1980Arg), p.Ser2082Thr (p.Ser2063Thr), p.Leu2197Trp (p.Leu2178Trp), p.Asp2317Glu (p.Asp2298Glu)] two nonsense [p.Lys396* (p.Lys377*), p.Ser2205* (p.Ser2186*)], one insertion [p.Glu1268_Asp1269ins (p.Glu1249_Asp1250)] and seven deletions [p.Leu882del (p.Leu863del), p.Met701del (p.Met682del), p.Leu1223del (p.Leu1204del), p.Trp1961_Tyr1962del (p.Trp1942_Tyr1943del) p.Glu1988del (p.Glu1969del), p.His1841del (p.His1822del), p.Ser2205del (p.Ser2186del)] were identified. Double mutations (p.Asp2317Glu; p.Thr696Ile) were observed in a moderate HA case. Mutations [p. Arg612Cys (p.Arg593Cys), p.Arg2326Gln (p.Arg2307Gln)] known to be predisposing to inhibitors to factor VIII (FVIII) were identified in two patients. 4.6% of the cases were found to be cross reacting material positive (CRM+ve). A wide heterogeneity in the nature of mutations was seen in the present study which has been successfully used for carrier detection and antenatal diagnosis in 10 families affected with severe to moderate HA.

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Section: Discussionmentioning

confidence: 84%

Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India

et al. 2014

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Spectrum of Causative Mutations in Patients with Hemophilia A in Russia

Pshenichnikova

Salomashkina

Poznyakova

et al. 2023

Genes

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Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which results from defects in the F8 gene. Nowadays, more than 3500 different pathogenic variants leading to HA have been described. Mutation analysis in HA is essential for accurate genetic counseling of patients and their relatives. We analyzed patients from 273 unrelated families with different forms of HA. The analysis consisted of testing for intron inversion (inv22 and inv1), and then sequencing all functionally important F8 gene fragments. We identified 101 different pathogenic variants in 267 patients, among which 35 variants had never been previously reported in international databases. We found inv22 in 136 cases and inv1 in 12 patients. Large deletions (1–8 exons) were found in 5 patients, and we identified a large insertion in 1 patient. The remaining 113 patients carried point variants involving either single nucleotide or several consecutive nucleotides. We report herein the largest genetic analysis of HA patients issued in Russia.

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Ten novel factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore

Cited by 2 publications

References 5 publications

Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India

Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India

Spectrum of Causative Mutations in Patients with Hemophilia A in Russia

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