Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.
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.
Kim
In-Suk
IS
Department of Laboratory Medicine, Gyeong-Sang National University Hospital, Jinju, South Korea.
Oh
Soo-Young
SY
Departments of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Choi
Suk-Joo
SJ
Departments of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Kim
Jong-Hwa
JH
Departments of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Park
Kwan Hyun
KH
Departments of Urology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Park
Hyun-Kyung
HK
Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, South Korea.
Kim
Jong-Won
JW
Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, South Korea.
Ki
Chang-Seok
CS
Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, South Korea. changski@skku.edu.
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
D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors; D014364:Tryptophan; D001120:Arginine