Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
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DOI：
10.1038/gim.2017.53
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发表时间：
2017-12
期刊：
影响因子：
--
通讯作者：
Ogata T
中科院分区：
文献类型：
--
作者：
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
Temple Syndrome（TS 14）是一种罕见的由14q32.2印迹区域的畸变引起的印迹疾病。在这里，我们报告了32例日本TS 14患者的全面分子和临床研究结果。我们在356例具有不同表型的患者中进行了TS 14的分子研究，并在所有TS 14患者中进行了临床研究，包括13例先前报道的患者。我们确定了19名新的TS 14患者，总共32名患者由23名母亲单亲二体性（UPD（14）mat）患者，6名表位突变患者和3名微缺失患者组成。临床研究显示，50%的患者同时存在Prader-Willi综合征（PWS）样明显张力减退和Silver-Russell综合征（SRS）样表型，20%的患者仅存在PWS样张力减退，20%的患者仅存在SRS样表型，其余10%的患者在婴儿期出现非综合征性生长衰竭，76%的青春期或青春期以上的患者存在促性腺激素依赖性性早熟。这些结果表明，TS 14不仅是一个基因诊断的实体，但也是一个临床可识别的疾病。TS 14的基因检测应考虑在生长障碍加上婴儿期的PWS样张力减退和SRS样表型，和/或性早熟，以及由于母体14q32.2微缺失而导致的Kagami-Ogata综合征家族史的患者中进行。
Temple 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. We performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported. We 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. These 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.
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DOI：
10.1038/ejhg.2012.26
发表时间：
2012-09
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
通讯作者：
--
影响因子：
3.7
作者：
Kagami M;Matsuoka K;Nagai T;Yamanaka M;Kurosawa K;Suzumori N;Sekita Y;Miyado M;Matsubara K;Fuke T;Kato F;Fukami M;Ogata T
通讯作者：
Ogata T
影响因子：
4
作者：
Ioannides, Yiannis;Lokulo-Sodipe, Kemi;Temple, I. Karen
通讯作者：
Temple, I. Karen
影响因子：
5.2
作者：
Cassidy, Suzanne B.;Driscoll, Daniel J.
通讯作者：
Driscoll, Daniel J.
DOI：
10.1297/cpe.16.85
发表时间：
2007
期刊：
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
影响因子：
--
作者：
Ogata T;Tanaka T;Kagami M
通讯作者：
Kagami M