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Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis

 Joo Hyung Han  ;  Seung Kim  ;  Hoon Jang  ;  So Won Kim  ;  Min Goo Lee  ;  Hong Koh  ;  Ji Hyun Lee 
 PLOS ONE, Vol.10(6) : e0131251, 2015 
Journal Title
Issue Date
Ankyrins/genetics* ; Codon, Nonsense ; DNA Mutational Analysis ; Exome ; Family Health ; Female ; Heterozygote ; Humans ; Hyperbilirubinemia/genetics ; Male ; Middle Aged ; Mutation* ; Pedigree ; Republic of Korea ; Spherocytosis, Hereditary/genetics* ; Splenectomy ; Young Adult
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.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
Koh, Hong(고홍) ORCID logo https://orcid.org/0000-0002-3660-7483
Kim, Seung(김승) ORCID logo https://orcid.org/0000-0003-4373-9828
Lee, Min Goo(이민구) ORCID logo https://orcid.org/0000-0001-7436-012X
Lee, Ji Hyun(이지현)
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