The Journal of Pediatrics
Volume 155, Issue 6 , Pages 900-903.e1 , December 2009

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

  • Kana Hosoki, MS

      Affiliations

    • Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    • ,
  • Masayo Kagami, MD, PhD

      Affiliations

    • Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    • ,
  • Touju Tanaka, MD, PhD

      Affiliations

    • Division of Clinical Genetics and Molecular Medicine, National Research Institute for Child Health and Development, Tokyo, Japan
    • ,
  • Masaya Kubota, MD, PhD

      Affiliations

    • Department of Pediatric Neurology, National Research Institute for Child Health and Development, Tokyo, Japan
    • ,
  • Kenji Kurosawa, MD, PhD

      Affiliations

    • Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan
    • ,
  • Mitsuhiro Kato, MD, PhD

      Affiliations

    • Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
    • ,
  • Kimiaki Uetake, MD

      Affiliations

    • Department of Pediatrics, Obihiro Kosei Hospital, Obihiro, Japan
    • ,
  • Jun Tohyama, MD, PhD

      Affiliations

    • Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata, Japan
    • ,
  • Tsutomu Ogata, MD, PhD

      Affiliations

    • Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    • ,
  • Shinji Saitoh, MD, PhD

      Affiliations

    • Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    • Corresponding Author InformationReprint requests: Shinji Saitoh, MD, PhD, Department of Pediatrics, Hokkaido University, Graduate School of Medicine, North 15, West 7, Kita-ku, Sapporo, 060-8638, Japan.

Received 20 March 2009 ,Revised 6 May 2009 ,Accepted 22 June 2009.

References 

  1. Kotzot D, Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet A. 2005;136:287–305
  2. Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet. 2008;40:237–242
  3. Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. Eur J Hum Genet. 2008;16:1019–1023
  4. Buiting K, Kanber D, Martín-Subero JI, Lieb W, Terhal P, Albrecht B, et al. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum Mutat. 2008;29:1141–1146
  5. Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P. Maternal uniparental disomy for chromosome 14. J Med Genet. 1991;28:511–514
  6. Nicholls RD, Saitoh S, Horsthemke B. Imprinting in Prader-Willi and Angelman syndromes. Trends Genet. 1998;14:194–200
  7. Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, et al. Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet A. 2006;140:2039–2049
  8. Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation-specific PCR simplifies imprinting analysis. Nat Genet. 1997;16:16–17
  9. Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, et al. Epigenetic detection of human chromosome 14 uniparental disomy. Hum Mutat. 2003;22:92–97
  10. Cox H, Bullman H, Temple IK. Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. Am J Med Genet A. 2004;127A:21–25
  11. Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J Med Genet. 2007;44:637–640
  12. Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpass L, Claussen U, Michel S, et al. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. Hum Mol Genet. 2003;12:2723–2732

 This work was partially supported by a grant from the Ministry of Education, Science and Culture of Japan. The authors declare no conflicts of interest.

PII: S0022-3476(09)00614-3

doi: 10.1016/j.jpeds.2009.06.045

The Journal of Pediatrics
Volume 155, Issue 6 , Pages 900-903.e1 , December 2009

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