巨轴索神经病1例临床表现及基因突变分析并文献复习OA北大核心CSTPCD

The analysis revealed the clinical phenotypic and genetic characteristics of a patient with Giant axonal neuropathy,combined with the clinical phenotype and gene mutation characteristics of GAN patients reported in China,we provided a reference for the diagnosis of GAN and genetic counseling.Retrospectively analyzed the clinical data and other auxiliary inspection materials of a GAN patient with chromosomal 16q23.2 partial deletions,and gene detection is performed on the child and his parents.The clinical data and pathogenic mutations of GAN patients in China were summarized in this study based on related databases.The proband is a seven years and six months old boy with duck walking,and a history of seizures.Gene detection shown that the chromosome 16q23.2 region was partially deleted,Combined with clinical manifestations,the child was diagnosed with GAN.The summary of 12 Chinese GAN patients'clinical manifestations revealed that the average onset age is three years old,and all of them showed symptoms with unexpected lower limbs,gait abnormalities,and walking obstacles in their early childhood.Our patient is deleted by a gene fragment,and other are point mutation.The location of the mutation is widely distributed in three domains of GAN genes.Partial deletion of GAN gene leads to Giant axonal neuropathy in this case.This study further complements the genetic mutant and summarizes the clinical phenotypes for GAN patients in China,and provide a reference for GAN clinical diagnosis and genetic counseling.