先天性无痛无汗症家系致病基因的研究

目的 明确遗传性感觉和自主神经病Ⅳ型[又称先天性无痛无汗症(CIPA)]患者的临床诊断.对该家系成员NTRK1基因及FAM134B基因进行外显子测序,明确该家系的致病基因状态.方法 采集CIPA患者皮肤及皮下组织,进行HE染色及免疫组织化学检测,明确该CIPA患者诊断;通过外显子测序的方法,检测该家系NTRK 1基因和...

Pathogenic genes in a family with congenital insensitivity to pain with anhidrosis

【Objective】To confirm the clinical diagnosis of 1 patient with congenital insensitivity to pain with anhidrosis(CIPA),and to determine the pathogenic gene status of the CIPA family by sequencing the exons of NTRK1 gene and FAM134B gene in the family members.【Methods】The skin and subcutaneous tissue of the CIPA patient were collected,HE staining and immunohistochemical SP method were used,and the diagnosis of the patient was confirmed.Exon sequencing was used to detect the mutations of NTRK1 gene and FAM134B gene in CIPA family,and to determine whether they are pathogenic genes of CIPA family.【Results】The patient had typical clinical symptoms of CIPA,such as anhidrosis,high fever,loss of pain and growth retardation,skin biopsy suggested that epidermal and dermal hair follicle,sweat gland atrophy,and immunohistochemical examination showed no skin peripheral nerve myelin,accompanied by small myelinated fiber loss.CIPA family NTRK1 gene and FAM134B gene were detected,and no significant mutation in FAM134B gene was found,indel mutation in intron 2 of NTRK1 gene was found in the patient,his father and younger brother,and the mutation in exon 15 of NTRK1 gene was found in the patient and his mother.【Conclusion】The diagnosis of CIPA was confirmed by clinical history collection,physical examination,pain and temperature test and pathological biopsy of the skin.Indel mutation in intron 2 and valine(GTG)to methionine(ATG)mutation in exon 15 at position 679 of NTRK1 gene were found by exon sequencing,and it is speculated that the two mutations may lead to the onset of the disease.No significant mutations were found in FAM134B gene,and other pathogenic genes might exist,which need further study.