論文

査読有り 国際誌
2017年12月

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Genetics in medicine : official journal of the American College of Medical Genetics
  • Kagami M
  • Nagasaki K
  • Kosaki R
  • Horikawa R
  • Naiki Y
  • Saitoh S
  • Tajima T
  • Yorifuji T
  • Numakura C
  • Mizuno S
  • Nakamura A
  • Matsubara K
  • Fukami M
  • Ogata T
  • 全て表示

19
12
開始ページ
1356
終了ページ
1366
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/gim.2017.53

PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported.ResultsWe identified 19 new patients with TS14, and the total of 32 patients was made up of 23 patients with maternal uniparental disomy (UPD(14)mat), six patients with epimutations, and three patients with microdeletions. Clinical studies revealed both Prader-Willi syndrome (PWS)-like marked hypotonia and Silver-Russell syndrome (SRS)-like phenotype in 50% of patients, PWS-like hypotonia alone in 20% of patients, SRS-like phenotype alone in 20% of patients, and nonsyndromic growth failure in the remaining 10% of patients in infancy, and gonadotropin-dependent precocious puberty in 76% of patients who were pubescent or older.ConclusionThese results suggest that TS14 is not only a genetically diagnosed entity but also a clinically recognizable disorder. Genetic testing for TS14 should be considered in patients with growth failure plus both PWS-like hypotonia and SRS-like phenotypes in infancy, and/or precocious puberty, as well as a familial history of Kagami-Ogata syndrome due to maternal microdeletion at 14q32.2.

リンク情報
DOI
https://doi.org/10.1038/gim.2017.53
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/28640239
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729347
URL
http://europepmc.org/abstract/med/28640239
ID情報
  • DOI : 10.1038/gim.2017.53
  • ORCIDのPut Code : 45756910
  • PubMed ID : 28640239
  • PubMed Central 記事ID : PMC5729347

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