Objective:To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with intellectual disability.Methods:The proband with intellectual disability was diagnosed at Luohe Central Hospital in December 2019. Peripheral blood samples were collected from four family members. Whole exome sequencing (WES) was used to screen the pathological mutations. Then the PCR and Sanger sequencing were used to verify the selected mutations and combine the relevant database to analyze variation loci.Results:We infer that the ARX c.1162 A>G was co-segregated with the phenotype of the family based on the results of WES. The results of sanger sequencing and WES are consistent. The mother of the proband is the carrier of the mutation. There is no mutation frequency reported in the healthy population. The mutation of the ARX c.1162A>G is harmful inferred by a variety of bioinformatics software. Combined with the phenotypic analysis of OMIM database, we infer the phenotype caused by the mutation is consistent with the patients in the family.Conclusion:The mutation of the ARX c.1162 A>G may be the cause of the intellectual disability in the family affected. And the variant has not been reported in China.

A 53-year woman and her 18-year daughter presenting with bone pain, bone fractures, bone deformities and short stature were admitted to Gansu Provincial People′s Hospital in March 2021. Laboratory tests showed low blood phosphorus, low renal phosphorus threshold, normal or low blood calcium, and normal or increased PTH. The high-throughput sequencing indicated heterozygous mutations of the PHEX gene (Phosphate-regulating gene with Homology to Endopeptidases on the X chromosome) in two patients, which was not detected in other family members; finally the diagnosis of X-linked dominant hypophosphatemic rickets/osteomalacia(XLH)was confirmed for these two patients. Treated with neutral phosphorus solution and Rocaltrol, bone pain was relieved completely in the younger patient, but not for her mother due to long disease course and severe complications. Because of the large heterogeneity of the disease there are high missed diagnosis and misdiagnosis rates for XLH. In this paper a pedigree of XLH is reported with literature review.

Objective To exploring the correlation between serum miR-195 and metabolic associated fatty liver disease(MAFLD)in type 2 diabetes mellitus(T2DM)patients.Methods A total of 79 patients with T2DM who were treated in the Endocrinology Department of Gansu Provincial People's Hospital were enrolled in this study from October 2022 to August 2023.They were divided into simple T2DM(n=37)and MAFLD group(MAFLD,n=42)according to whether they were complicated with MAFLD.Meanwhile,34 healthy individuals who underwent physical examinations were selected as the normal control(NC)group.Results Compared with the NC group,FPG,HbA1c and HOMA-IR increased,while HDL-C decreased in T2DM and MAFLD group(P<0.05).The TG and hs-CRP levels were higher in MAFLD group than in NC and T2DM group(P<0.05).The serum miR-195 expression decreased sequentially(P<0.05),while FAS increased sequentially in NC,T2DM,and MAFLD group(P<0.05).Spearman correlation analysis showed that miR-195 was negatively correlated with FPG,HOMA-IR,hs-CRP,and FAS(P<0.05).Multiple linear regression analysis showed that HOMA-IR and FAS were the influencing factors for serum miR-195.Conclusions Down-regulation of serum miR-195 expression in patients with T2DM combined with MAFLD may be by glucose and lipid metabolism,IR and inflammatory response.