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首页> 外文期刊>American journal of medical genetics, Part A >Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia
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Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia

机译:TP63的新突变与外胚层外胚层发育异常和裂痕综合征以及T细胞淋巴细胞减少有关

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摘要

A male child with clinical features consistent with EEC/EECUT plus syndrome (ectrodactyly, ectodermal dysplasia, clefting, urinary tract abnormalities, and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, cleft palate, bilateral hydronephrosis, and T cell lymphopenia is reported. He was noted to have T cell receptor excision circle (TREC) analysis below the cutoff for normal on newborn screening and T cell lymphopenia on further immunologic evaluation. A novel, presumably pathogenic de novo 3bp deletion in exon 7 of TP63 (c.970_972delATT; NCBI Reference Sequence NM_003722.4) was identified. This observation provides supporting evidence for the association between TP63 mutations and EECUT plus syndrome. Clinicians caring for infants presenting with EEC spectrum disorders in the newborn period should also consider the possibility of T cell lymphopenia.
机译:一名男婴,其临床特征与EEC / EECUT加综合征(外胚层,外胚层发育异常、,裂,尿路异常和胸腺异常)一致,包括轻度外胚层异常,手脚外rod,abnormal裂,双侧肾积水和T细胞淋巴结减少被报道。据悉,他在新生儿筛查中具有正常值以下的T细胞受体切除环(TREC)分析,而在进一步的免疫学评估中具有T细胞淋巴细胞减少症。在TP63外显子7(c.970_972delATT; NCBI参考序列NM_003722.4)中鉴定出一种新型的,可能是致病的从头3bp缺失。该观察结果为TP63突变与EECUT加综合征之间的关联提供了支持证据。照顾新生儿期EEC频谱异常的婴儿的临床医生也应考虑T细胞淋巴细胞减少的可能性。

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