Korean J Pediatr.  2008 Mar;51(3):315-322. 10.3345/kjp.2008.51.3.315.

Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome

• Bae KW
• Ko JM
• Yoo HW

• KMID: 2280405
• DOI: http://doi.org/10.3345/kjp.2008.51.3.315

Abstract

PURPOSE: 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.
METHODS
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).
RESULTS
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.
CONCLUSION
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.

Keyword

Prader-Willi syndrome; Phenotype-genotype correlation; Microdeletion; Uniparental disomy; Growth hormone

MeSH Terms

Birth Weight
Body Mass Index
Child
Chromosomes, Human, Pair 15
Cryptorchidism
Cytogenetic Analysis
Genotype
Growth Hormone
Humans
Hypopigmentation
Intellectual Disability
Male
Maternal Age
Medical Records
Phenotype
Prader-Willi Syndrome
Retrospective Studies
Uniparental Disomy
Growth Hormone