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Clinical and genetic analysis for four Chinese families with Prader–Willi syndrome

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Abstract

Prader–Willi syndrome (PWS) is a complex, genetic, multisystem disorder. Its major clinical features include neonatal hypotonia and failure to thrive, mental retardation, hypogonadism, short hands and feet, hyperphagia-caused obesity, and characteristic appearance. The genetic basis of PWS is also complex. It is caused by the absence of expression of the active paternal genes such as the SNRPN, NDN, and possibly others in the PWS critical region on 15q11–13. PWS is in effect a contiguous gene syndrome resulting from deletion of the paternal copies of the imprinted. Consensus in clinical diagnostic criteria was established in 1993. However, identifying relevant patients for tests remains a challenge for most practitioners, as many features of the disorder are nonspecific, and others can be subtle or evolved over time. Consequently, molecular genetic tests can be used to diagnose PWS accurately, allowing early diagnosis of the syndrome. High resolution G-banding, high resolution cytogenetic methylation-specific PCR (MS-PCR), and fluorescence in situ hybridization (FISH) are routinely used to diagnose PWS. In this study, four Chinese patients, with typical PWS features, were detected by MS-PCR and FISH. Three were cytogenetically normal, but lacked paternal expression of proximal chromosome 15q because of maternal uniparental disomy (UPD). The other one, however, demonstrated an unbalanced de novo translocation 46, XX, t (7; 15).

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Acknowledgments

We thank all the members of the participating families for their cooperation. This study was supported by grants from Shanghai Leading Academic Discipline Projects (No. Y0204) and Chinese National Natural Science Foundation for Excellent Young Scientist (No. 30725037).

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Authors and Affiliations

  1. Department of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Endocrine and Metabolic Division of Shanghai Universities E-Institutes, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 197 Ruijin Er Road, Shanghai, 200025, People’s Republic of China

    Yu-wen Zhang, Hui-ying Jia, Jie Hong, Yan Ge, Hui-jie Zhang, Lei Ye, Bin Cui, Xiao-ying Li, Wei-qiong Gu, Yi-fei Zhang, Wei-qing Wang & Guang Ning

  2. Health Science Center, Shanghai Institute of Biological Sciences, Chinese Academy of Science and Shanghai Jiao Tong University Medical School, Shanghai, People’s Republic of China

    Bin Cui, Xiao-ying Li & Guang Ning

  3. Department of Endocrine and Metabolic Diseases, Minhang Hospital, Ruijin Conglomerate, Shanghai, People’s Republic of China

    Chun-fang Shen

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  1. Yu-wen Zhang
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Correspondence to Jie Hong.

Additional information

Yu-wen Zhang and Hui-ying Jia have contributed equally to this work.

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Zhang, Yw., Jia, Hy., Hong, J. et al. Clinical and genetic analysis for four Chinese families with Prader–Willi syndrome. Endocr 36, 37–44 (2009). https://doi.org/10.1007/s12020-009-9203-1

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