Fanconi anemia and ataxia telangiectasia in siblings who inherited unique combinations of novel FANCA and ATM null mutations

Balta G., Patiroglu T., Gumruk F.

Journal of Pediatric Hematology/Oncology, vol.41, no.3, pp.243-246, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.1097/mph.0000000000001336
  • Journal Name: Journal of Pediatric Hematology/Oncology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.243-246
  • Keywords: Ataxia telangiectasia, ATM null mutation, Direct tandem repeat, Fanconi anemia, Hotspot motifs, Novel FANCA mutation
  • Hacettepe University Affiliated: Yes


A unique consanguineous family with 2 genomic instability disorders, Fanconi anemia and ataxia telangiectasia, revealed exceptional combinations of null mutations in the FANCA and ATM genes. Two siblings with Fanconi anemia had novel homozygous consecutive microdeletions (c.1361-1370delCCTCCTTTGG, c.1374delC) adjoined to upstream 65 nucleotide direct tandem repeats and deletion hotspot motifs in the FANCA gene. The sibling with ataxia telangiectasia revealed a homozygous p.Arg2993Stop (c.8977C>T) null mutation in the ATM gene. All patients were also heterozygous for the opposite mutations without any additional clinical or laboratory manifestations. Double heterozygote parents did not present any clinical symptoms suggestive of the 2 disorders.