Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
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DOI：
10.1136/jmedgenet-2014-102396
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发表时间：
2014-08-01
影响因子：
4
通讯作者：
Temple, I. Karen
中科院分区：
文献类型：
--
作者：
Ioannides, Yiannis;Lokulo-Sodipe, Kemi;Temple, I. Karen
14号染色体在14q32处有一个印迹位点。母亲14号染色体的单亲二体，父亲的缺失和基因间差异甲基化区域（IG-DMR）甲基化的缺失导致人类低出生体重、低张力、青春期提前和成年后显着矮个子的表型。对51例病例的世界文献分析确定了将加强诊断和潜在改善治疗的关键特征。我们发现出生体重SD评分（SDS）中位数为-1.88，成人最终身高中位数为-2.04 SDS。肌张力减退和运动迟缓分别在93%和83%的病例中出现。86%的病例报告青春期提前，平均月经初潮年龄为10岁零2个月。小手和小脚经常被报道（分别为87%和96%）。早产很常见（30%），并且经常报告喂养困难（n = 22）。有证据表明智力轻度下降（测量的智商为75-95）。49%的病例报告肥胖，3例患者发展为2型糖尿病。据报道，两名患者有复发性低血糖，其中一名患者随后被证明是生长激素缺乏，并开始替代治疗。我们建议使用“坦普尔综合征”的名称，并建议改进诊断和长期监测，特别是生长和心血管危险因素，是必要的。
Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. The analysis of the world literature of 51 cases identifies the key features that will enhance diagnosis and potentially improve treatment. We found a median birth weight SD score (SDS) of -1.88 and median adult final height of -2.04 SDS. Hypotonia and motor delay were reported in 93% and 83% of cases, respectively. Early puberty was reported in 86% of cases with the mean age of menarche at 10 years and 2 months of age. Small hands and feet were reported frequently (87% and 96%, respectively). Premature birth was common (30%) and feeding difficulties frequently reported (n = 22). There was evidence of mildly reduced intellectual ability (measured IQ 75-95). Obesity was reported in 49% of cases, and three patients developed type 2 diabetes mellitus. Two patients were reported to have recurrent hypoglycaemia, and one of these patients was subsequently demonstrated to be growth hormone deficient and started replacement therapy. We propose the use of the name 'Temple syndrome' for this condition and suggest that improved diagnosis and long-term monitoring, especially of growth and cardiovascular risk factors, is required.