title: Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.
abstract: Hereditary spherocytosis (HS), a common form of inherited hemolytic anemia, is a heterogeneous group of disorders with regard to clinical severity, protein defects, and mode of inheritance. Causal mutations in at least five genes have been reported so far. Because multiple genes have been associated with HS, clinical genetic testing that relies on direct sequencing will be a challenge. In this study, we used whole exome sequencing to identify a novel nonsense mutation in ANK1 (p.Q1772X, NM_020476) that resulted in a truncated protein in a Korean patient with HS. Sanger sequencing confirmed the two affected individuals in the patient's family were heterozygous for the mutation. This is the first report of a Korean family that carries an ANK1 mutation responsible for HS. Our results demonstrate that next generation sequencing is a powerful approach for rapidly determining the genetic etiology of HS.
authors.affiliation: Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Joo Hyung
authors.initials: JH
authors.lastname: Han
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Seung
authors.initials: S
authors.lastname: Kim
authors.affiliation: Department of Chemistry, Yonsei University, Seoul, Korea.
authors.forename: Hoon
authors.initials: H
authors.lastname: Jang
authors.affiliation: Department of Pharmacology and PharmacoGenomics Research Center, Inje University College of Medicine, Busan, Korea; Department of Clinical Pharmacology, Inje University, Busan Paik Hospital, Busan, Korea.
authors.forename: So Won
authors.initials: SW
authors.lastname: Kim
authors.affiliation: Department of Pharmacology, Pharmacogenomic Research Center for Membrane Transporters, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Min Goo
authors.initials: MG
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Hong
authors.initials: H
authors.lastname: Koh
authors.affiliation: Department of Oral Biology, Yonsei University College of Dentistry, Seoul, Korea.
authors.forename: Ji Hyun
authors.initials: JH
authors.lastname: Lee
mesh_terms: D017487:Ankyrins / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D059472:Exome; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D006932:Hyperbilirubinemia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D056910:Republic of Korea; D013103:Spherocytosis, Hereditary / Q000235:genetics*; D013156:Splenectomy; D055815:Young Adult
chemical_list: C110202:ANK1 protein, human; D017487:Ankyrins; D018389:Codon, Nonsense