title: FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.
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.
authors.affiliation: Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India.
authors.forename: Avani
authors.initials: A
authors.lastname: Solanki
authors.affiliation: Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India.
authors.forename: Purvi
authors.initials: P
authors.lastname: Mohanty
authors.affiliation: Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India.
authors.forename: Pallavi
authors.initials: P
authors.lastname: Shukla
authors.affiliation: Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India.
authors.forename: Anita
authors.initials: A
authors.lastname: Rao
authors.affiliation: Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India.
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.affiliation: Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India.
authors.forename: Babu Rao
authors.initials: BR
authors.lastname: Vundinti
mesh_terms: D043283:Chromosome Fragile Sites; D005199:Fanconi Anemia / Q000235:genetics* / Q000473:pathology; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics*; D005838:Genotype; D007194:India; D009154:Mutation; D010641:Phenotype; D054875:Ubiquitination
chemical_list: C498471:FANCA protein, human; D052217:Fanconi Anemia Complementation Group A Protein