伴染色体核型异常的毛发-鼻-指(趾)综合征1例并文献复习

摘要目的探讨毛发-鼻-指（趾）综合征(TRPSs)主要临床特征和基因突变特点，提高对该病的认识。方法对1例TRPSs女性患儿临床特征、实验室检查、影像学检查及家系染色体核型进行分析，提取其家系外周血白细胞基因组DNA,PCR扩增TRPS1基因全部编码区序列后测序分析，并复习相关文献。结果患儿头皮毛发稀疏、细软，眉毛外侧稀疏，耳大竖立，梨状鼻，人中长而扁平，上唇薄；指间关节弯曲粗大，双手X线片发现锥形骨骺；染色体核型分析示：46，XX，t(2q-;8q+)，其弟及其父母染色体核型均正常；家系外周血基因突变分析结果为阴性。结论TRPSs的诊断以临床特征和影像学表现为主要依据。外周血TRPS1基因突变分析结果为阴性，结合患儿染色体核型分析结果，推测可能存在TRPS1基因突变以外的其他致病因素。

Analysis of a familial case of tricho-rhino-phalangeal syndrome with abnormal chromosome and literature review

Abstract ObjectiveTo explore clinical characteristics, gene mutation and research progress of tricho-rhino-phalangeal syndrome(TRPSs) in order to improve the recognition of this disease. Methods Clinical signs and laboratory examinations were documented from a female patient and image studies were conducted. Furthermore, the karyotype of her family was analysed, and genomic DNA in the peripheral blood leucocytes from the pedigree was extracted, the entire coding region of TRPS1 gene was amplified with polymerase chain reaction( PCR), and sequenced directly. The related literatures were reviewed. ResultsThe patient presented with characteristic facial abnormalities such as sparse scalp hair, laterally sparse eye-brows, protruding ears, bulbous pear-shaped nose, elongated and flat philtrum, and thin upper lip; brachydactyly with swollen and broadened fingers and X-ray of the hands showed cone-shaped epiphyses of the phalanges; the patient′s karyotype was 46, XX, t(2q-;8q+). The results of her parents and brother′s karyotype were normal. TRPS1 gene mutation analysis also showed negative results. ConclusionsThe diagnosis of TRPSs should be made on the basis of suggestive clinical features and radiological findings. Further study is needed to find out whether other factors contribute to TRPS to explain the absence of mutation in the female patient.