Etiological Analysis And Genetic Variation Analysis Of 76 Short Stature Patients

Objective:There are many causes of short stature,The mechanism by which many diseases contribute to short stature has not yet been clarified.With the development of molecular biology,genetic mutations becomes an important cause of short stature,many single gene diseases have not been clearly diagnosed,In this study,genetic testing and etiological diagnosis of short stature patients and their parents were performed by second-generation sequencing method,identify short stature susceptibility genes,provides the possibility and new direction for the treatment of short stature.Methods:Clinical data of 76 children with short stature admitted to hospital from June 2017 to September 2018 were retrospectively analyzed.The whole blood DNA was extracted,Next-generation sequencing-based mutation screening of patients and their parents,and the variation was verified and interpreted to explore the relationship between genotypes and phenotypes,so as to clarify the etiological diagnosis.Results:According to clinical manifestation in children can be divided into five categories,23 cases of including growth hormone deficiency,29 cases of idiopathic short stature,10 cases of skeletal dysplasia,13case of syndrome and 1case of hypothyroidism,the interpretation of the next-generation sequencing and gene mutation,there are 27 cases of gene mutation,the total detection rate was 35.5%,13 cases including syndrome,skeletal dysplasia 7 cases,4 cases were idiopathic short stature,growth hormone deficiency in 2 cases,1 case with hypothyroidism.There were 7 homozygous mutations and 20 heterozygous mutations.Only 4gene mutations were reported in the current literature,and the remaining 23 gene mutations were all new mutations,which have not been reported so far.Conclusion:In this study,gene next-generation sequencing technology was used to explain the causes of 35.5 percent of children with short stature,accumulate population genetic data,and combine clinical research and molecular research,in-depth study of phenotype and genotype,providing a good data and approach for the diagnosis of short stature caused by single gene disease.