title: Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.
abstract: Currarino syndrome (CS) is a rare autosomal dominant disease that has been described as a triad of partial sacral agenesis, anorectal anomalies, and a presacral mass. Mutations in the HLXB9 gene have been suggested to be the genetic background of CS. In this study, sequence analysis of the HLXB9 gene was performed in two familial and two sporadic Korean patients showing the clinical features of CS, and two mutations in the HLXB9 gene were identified only in the two familial cases. One mutation (R295W) has been reported previously, and the other (H260_Q261delinsLELLELE) is novel. Consistent with previous observations, the phenotypic expression of the mutation carriers in the CS families varies from mild to severe, including the complete triad. This study confirms that familial CS patients in Korea have the same genetic background as other ethnicities and reaffirms the phenotype variability among CS patients with the same mutation.
authors.affiliation: Department of Laboratory Medicine, Gyeong-Sang National University Hospital, Jinju, South Korea.
authors.forename: In-Suk
authors.initials: IS
authors.lastname: Kim
authors.affiliation: Departments of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Soo-Young
authors.initials: SY
authors.lastname: Oh
authors.affiliation: Departments of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Suk-Joo
authors.initials: SJ
authors.lastname: Choi
authors.affiliation: Departments of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Jong-Hwa
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Departments of Urology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Kwan Hyun
authors.initials: KH
authors.lastname: Park
authors.affiliation: Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, South Korea.
authors.forename: Hyun-Kyung
authors.initials: HK
authors.lastname: Park
authors.affiliation: Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, South Korea.
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, South Korea. changski@skku.edu.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D001003:Anal Canal / Q000002:abnormalities*; D001120:Arginine / Q000737:chemistry / Q000235:genetics; D044466:Asian People / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D009154:Mutation; D010375:Pedigree; D012007:Rectum / Q000002:abnormalities*; D012447:Sacrum / Q000002:abnormalities*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014364:Tryptophan / Q000737:chemistry / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors; D014364:Tryptophan; D001120:Arginine