Bart综合征一例基因检测

Genetic detection in a neonate with Bart syndrome

报道新生儿Bart综合征1例并对其及父母进行基因检测。患儿,男,40周,出生后即发现双下肢、足部、左手腕、面部皮肤缺失,无家族史。对患者及父母DNA进行二代测序及一代测序验证,结果示患儿COL7A1基因存在2个突变,即c.2005C>T和c.7922G>A,患儿母亲检测到突变c.2005C>T,父亲检测到突变c.7922G>A。诊断:Bart综合征。行预防创面感染等支持对症处理后,现病情好转。

A case of neonatal with Bart syndrome was reported and the genetic mutations in this patient and the parents were detected.A 40-week-old male infant presented with loss of skin in both lower limbs,feet,left wrist,and face after birth.He had no family history of Bart syndrome.The DNA analysis of the patient and parents was detected by second-generation sequencing and verified by first-generation sequencing,and the results showed that there were two mutations,c:2005C>T and c.7922G>A,in the COL7A1 gene.A mutation of c.2005C>T was from the mother,c.7922G>A from the father.The diagnosis of Bart syndrome was made.The patient was improved after symptomatic treatment.