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Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan

Authors

  • Hsiang-Yu Lin,

    1. Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    3. Mackay Medicine, Nursing and Management College, Taipei, Taiwan
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  • Shuan-Pei Lin,

    1. Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    3. Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    4. Department of Infant and Child Care, National Taipei College of Nursing, Taipei, Taiwan
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  • Chih-Kuang Chuang,

    1. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    2. Medical College, Fu-Jen Catholic University, Taipei, Taiwan
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  • Ming-Ren Chen,

    1. Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    2. Mackay Medicine, Nursing and Management College, Taipei, Taiwan
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  • Jui-Lung Yen,

    1. Department of Pediatrics, Branch for Women and Children, Taipei City Hospital, Taipei, Taiwan
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  • Yann-Jinn Lee,

    1. Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    3. College of Medicine, Taipei Medical University, Taipei, Taiwan
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  • Chi-Yu Huang,

    1. Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
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  • Li-Ping Tsai,

    1. Department of Pediatrics, Buddhist Tzu Chi General Hospital, Taipei branch, Taipei, Taiwan
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  • Dau-Ming Niu,

    1. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
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  • Mei-Chyn Chao,

    1. Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung, Taiwan
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  • Pao-Lin Kuo

    1. Department of Obstetrics and Gynecology, National Cheng-Kung University Hospital, Tainan, Taiwan
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Correspondence
Dr. Shuan-Pei Lin, Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2 Chung-Shan North Road, Taipei 10449, Taiwan.Tel: +886 2 2543 3535 ext. 3090 | Fax: +886 2 2543 3642 | Email: zsplin@ms2.mmh.org.tw

Abstract

Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader–Willi syndrome (PWS).

Methods: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 through July 2006 in five medical centres in Taiwan. Clinical manifestations were compared between patients with deletion and those with maternal uniparental disomy (UPD).

Results: Deletion was present in 56 (84%), UPD in 10 (15%), and a probable imprinting centre deletion or imprinting defect in 1 (1%). PWS with deletion was more likely than that with UPD to be characterized by hypogonadism (p < 0.001), small hands and feet (p < 0.001), and hypopigmentation (p < 0.002). Both maternal (p = 0.015) and paternal age (p = 0.021) were higher in the UPD group. No other clinical features differed significantly different between the two groups.

Conclusion: In contrast to most Western populations with a higher incidence of UPD, this study of PWS in Taiwan shows a higher incidence of deletion. There may be subtle phenotypic differences between the UPD and deletion genotypes, but its not clear that these are important clinically.

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