Identification of a novel large intragenic deletion in a family with Fanconi anemia: first molecular report from India and review of literature.
We report here an Indian case with Fanconi anemia (FA) presented with fever, pallor, short stature, hyperpigmentation and upper limb anomaly. Chromosome breakage analysis together with FANCD2 Western blot monoubiquitination assay confirmed the diagnosis as FA. Multiplex ligation-dependent probe amplification (MLPA) revealed a novel homozygous large intragenic deletion (exons 8-27 del) in the FANCA gene in the proband. His sib and parents were also analyzed and found to be heterozygous for the same mutation. We also reviewed the literature of FANCA large intragenic deletions found in FA patients from different countries and the mechanism involved in the formation of these deletions. To the best of our knowledge, this is the first molecular report from India on FA. The finding expands the mutation spectrum of the FANCA gene. Identification of the mutation confirms the diagnosis of FA at DNA level and helps in providing proper genetic counseling to the family.
Department of Cytogenetics, National Institute of Immunohaematology (ICMR), 13th Floor, New Multistoried Building, K.E.M. Hospital Campus, Parel, Mumbai-400012, India.
Pallavi
P
Shukla
Anita
A
Rao
Kanjaksha
K
Ghosh
Babu Rao
BR
Vundinti
D001483:Base Sequence / Q000235:genetics; D002460:Cell Line; D002675:Child, Preschool; D019457:Chromosome Breakage; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics*; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics; D052236:Fanconi Anemia Complementation Group D2 Protein / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007194:India; D008297:Male; D017384:Sequence Deletion
D052217:Fanconi Anemia Complementation Group A Protein; D052236:Fanconi Anemia Complementation Group D2 Protein