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首页> 外文期刊>Scandinavian journal of public health >Danish population-based registers for public health and health-related welfare research: Introduction to the supplement
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Danish population-based registers for public health and health-related welfare research: Introduction to the supplement

机译：丹麦基于人口的公共卫生和与健康相关的福利研究的登记册：补充说明

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Pitt-Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial gestalt and additional features, such as breathing anomalies. Following the discovery of the causative haploinsufficiency of transcription factor 4 (TCF4), about 60 patients have been reported. We looked for TCF4 mutations in 63 patients with a suspected PTHS. Haploinsufficiency of TCF4 was identified in 14 patients, as a consequence of large 18q21.2 chromosome deletions involving TCF4 (2 patients), gene mutations (11 patients) and a t(14q;18q) balanced translocation disrupting TCF4 (one patient). By evaluating the clinical features of these patients, along with literature data, we noticed that, in addition to the typical facial gestalt, the PTHS phenotype results from the various combinations of the following characteristics: intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. Although PTHS is currently considered to be involved in differential diagnosis with Angelman and Rett syndromes, we found that combining the facial characteristics with a detailed analysis of both the physical and the neurological phenotype, made molecular testing for PTHS the first choice. Based on striking clinical criteria, a diagnosis of PTHS was made clinically in two patients who had normal TCF4. This report deals with the first series of PTHS patients of Italian origin.
机译：皮特-霍普金斯综合症（PTHS）的特征在于严重的智力残疾，典型的面部格式塔和其他特征，例如呼吸异常。在发现转录因子4（TCF4）的致病单倍体不足之后，已报道了约60名患者。我们在63名疑似PTHS的患者中寻找TCF4突变。由于涉及TCF4的18q21.2染色体大缺失（2例），基因突变（11例）和t（14q; 18q）平衡易位破坏TCF4（1例），因此在14例患者中发现了TCF4的单倍型不足。通过评估这些患者的临床特征以及文献数据，我们注意到，除了典型的面部格式塔之外，PTHS表型还来自以下特征的各种组合：智力残疾，严重语言障碍，正常的生长参数出生，产后小头畸形，呼吸异常，运动不协调，眼部异常，便秘，癫痫发作，典型行为和微妙的脑部异常。尽管目前认为PTHS与Angelman和Rett综合征的鉴别诊断有关，但我们发现结合面部特征以及对物理和神经系统表型的详细分析，使PTHS分子检测成为首选。根据惊人的临床标准，对两名TCF4正常的患者进行了PTHS诊断。本报告涉及来自意大利的第一批PTHS患者。

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