Korean Journal of Pediatrics 2008;51(3):315-322.
Published online March 15, 2008.
Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome
Keun Wook Bae1, Jung Min Ko1, Han-Wook Yoo2
1Department of Pediatrics, Asan Medical Center University of Ulsan College of Medicine, Seoul, Korea
2Department of Pediatrics, Medical Genetics Clinic and Laboratory, Asan Medical Center University of Ulsan College of Medicine, Seoul, Korea
프래더 윌리 증후군의 유전학적 발병 기전에 따른 표현형 및성장 호르몬 치료 효과에 관한 연구
배근욱1, 고정민1, 유한욱2
1울산대학교 의과대학 서울아산병원 소아청소년과
2울산대학교 의과대학 서울아산병원 소아청소년과, 의학유전학 클리닉
Han-Wook Yoo, Email: hwyoo@amc.seoul.kr
: Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone (GH) therapy between these two PWS genotypes was analyzed.
: Fifty-three patients were diagnosed as having PWS based on molecular and cytogenetic analyses and clinical features. Data that included maternal age, birth weight, a feeding problem in the neonatal period, cryptorchidism, developmental delay or mental retardation, short stature, hypopigmentation, changes in height, weight, and body mass indexes (BMI) before and after GH treatment were obtained by a retrospective review of medical records. The data from the patients with microdeletion were compared with those from the patients with mUPD(15).
: Of the 53 patients with genetically confirmed PWS, 39 cases had microdeletion and 14 mUPD(15). Maternal ages were significantly higher in the mUPD(15) group, and hypopigmentation and a feeding problem in the neonatal period were more frequent in the microdeletion group. Growth hormone was administered to 20 patients [14 with microdeletion, 6 with mUPD(15)]. There were no differences between the two groups in height velocity, weight and height SDS, and BMI after GH therapy.
: Phenotype and genotype correlations were observed in Korean PWS patients, such as more advanced maternal ages in the mUPD(15) group and more feeding problems and hypopigmentations in the microdeletion group. Further long-term prospective studies are needed to correlate other aspects of the phenotypes.
Key Words: Prader-Willi syndrome, Phenotype-genotype correlation, Microdeletion, Uniparental disomy, Growth hormone

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