{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T07:57:35Z","timestamp":1782028655449,"version":"3.54.5"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T00:00:00Z","timestamp":1672012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Inherited Factor VII (FVII) deficiency is commonest among the rare bleeding disorders. A small number of patients present in infancy with severe bleeding, and many may remain asymptomatic but detected before surgery\/invasive procedures. Genetic testing may be helpful in predictive testing\/prenatal diagnosis in severe cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>Characterisation of clinical and genotypic spectrum of patients with inherited FVII deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retro\u2010prospectively, 35 cases with prolonged prothrombin time and FVII activity (FVII:C) &lt;50 IU\/dl were subjected to targeted resequencing. After in\u2010silico analysis, variant\/s were validated by Sanger sequencing in index cases and family members. Haplotype analysis was done for <jats:italic>F7<\/jats:italic> polymorphisms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Severe FVII deficiency was found in 50% of patients (FVII:C \u22641 IU\/dl), and 42.9% were asymptomatic. Clinical severity assessment revealed 17% severe, 17% moderate and 22.9% patients with mild bleeds. FVII levels ranged from .3 to 38 IU\/dl. Molecular analysis revealed variants in 30\/35 cases, of which 17 were homozygous, 10 were compound heterozygous and 3 were heterozygous. Twelve genetic variants were identified, one promoter variant c.\u201030A&gt;C; seven missense (c.215C&gt;G, c.244T&gt;C, c.253G&gt;C, c.904G&gt;A, c.961C&gt;T, c.1109G&gt;T, c.1211G&gt;A), two deletions (c.21delG, c.868_870delATC), and one each of nonsense c.634C&gt;T and splice\u2010site variant c.316+1G&gt;A. Recurrent variants c.1109G&gt;T and c.215C&gt;G were found in 17 and 8 cases, 12 of the former cases were homozygous. They had the same haplotype, indicating the founder effect in North Indians.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the largest cohort of FVII genotyping from India, confirming heterogeneity in terms of clinical manifestations, FVII activity and zygosity of the variants with a limited genotypic phenotypic correlation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hae.14730","type":"journal-article","created":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T18:28:31Z","timestamp":1672079311000},"page":"591-599","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect"],"prefix":"10.1111","volume":"29","author":[{"given":"Ritika","family":"Sharma","sequence":"first","affiliation":[{"name":"Department of Hematology Postgraduate Institute of Medical Education and Research  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