ArticlePloS one2016
FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.Journal, genetic engineering & biotechnology · 2024Article
- Fanconi Anemia: Challenges in Diagnosis and Management-A Case Series Report.Clinical case reports · 2024Article
- Article
- The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.Molecular genetics & genomic medicine · 2021Review
- Article
- Acute myeloid leukemia arising to genetic susceptibility genes related T cell acute lymphoblastic leukemia: case report.AME case reports · 2021Article
- Identification of Three Novel Mutations in theInternational journal of preventive medicine · 2020Article
- Article
- Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients.Frontiers in immunology · 2019Article
- Understanding complexity of Fanconi anaemia.The Indian journal of medical research · 2016Article
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Authors and funding
6 authors at 1 institution in 1 country.
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Abstract
Fanconi anemia (FA), a rare heterogeneous genetic disorder, is known to be associated with 19 genes and a spectrum of clinical features. We studied FANCA molecular changes in 34 unrelated and 2 siblings of Indian patients with FA and have identified 26 different molecular changes of FANCA gene, of which 8 were novel mutations (a small deletion c.2500delC, 4 non-sense mutations c.2182C>T, c.2630C>G, c.3677C>G, c.3189G>A; and 3 missense mutations; c.1273G>C, c.3679 G>C, and c.3992 T>C). Among these only 16 patients could be assigned FA-A complementation group, because we could not confirm single exon deletions detected by MLPA or cDNA amplification by secondary confirmation method and due to presence of heterozygous non-pathogenic variations or heterozygous pathogenic mutations. An effective molecular screening strategy should be developed for confirmation of these mutations and determining the breakpoints for single exon deletions.
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