ABSTRACT
OBJECTIVE@#To explore the clinical characteristics of congenital neutropenia caused by ELANE gene mutations.@*METHODS@#Clinical manifestations, absolute blood neutrophil count, high-throughput exome sequencing for mutation screening, suspected locus Sanger sequencing verification, processes of diagnosis and treatment of two patients with congenital neutropenia caused by ELANE gene mutation were retrospectively analyzed.@*RESULTS@#High-throughput sequencing has found that proband 1 has carried a heterozygous c.170C>T (p.Ala57Val) missense mutation in exon 2 of the ELANE gene, which was known to be pathological, and a heterozygous c.251T>G (p.Leu84Arg) mutation in exon 3 of proband 2, which was unreported previously. Sanger sequencing confirmed that neither mutation was inherited from their parents.@*CONCLUSION@#ELANE mutation is an important cause for congenital neutropenia. Detection of new pathogenic variants has enriched the mutation spectrum of the ELANE gene.
ABSTRACT
OBJECTIVE@#To carry out genetic testing for a male infant suspected for Menkes disease.@*METHODS@#Genomic DNA of the proband and his parents were extracted and subjected to family trio whole exome sequencing (WES). Microduplication and microdeletion of the ATP7A gene were detected by multiplex ligation-dependent probe amplification (MLPA). Suspected variants were subjected to bioinformatic analysis and verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor a de novo c.1870 -13T>G variation of the ATP7A gene, which may alter a splice site and affect its protein product.@*CONCLUSION@#The patient was diagnosed with Menkes disease due to the c.1870 -13T>G variant of the ATP7A gene. Whole exome sequencing of family trios is a powerful tool for the diagnosis of diseases with strong phenotypic heterogeneity.
Subject(s)
Humans , Infant , Male , Copper-Transporting ATPases , Genetics , Genetic Testing , Menkes Kinky Hair Syndrome , Genetics , Multiplex Polymerase Chain Reaction , Mutation , Exome SequencingABSTRACT
Objective:To observe the clinical efficacy and safety of piracetam tablets combined with butylphthalide soft capsules in the treatment of patients with lacunar infarction(LI) complicated with vascular cognitive impairment(VCI). Methods:Totally 87 cases of patients with LI and VCI were selected and randomly divided into the control group(44 cases)and the treatment group(43 cases). The control group was only treated with piracetam tablets(1. 2 g,tid),while the treatment group was treated with piracetam tablets(1. 2 g,tid)and butylphthalide soft capsules(0. 2 g,qid),and the treatment course was 30 days. The changes of MMSE score,serum of SOD level and adverse drug reactions were observed and compared in the two groups. Results:Compared with those before the treatment,the mini-mental state examination(MMSE)score and serum level of SOD of the two groups were increased(P < 0. 01)after the treatment,and the increase in the treatment group was more notable than that in the control group(P < 0. 01and P < 0. 05). The effective rate of the treatment group was 86. 05% ,which was higher than that of the control group(75. 00% ,P < 0. 05). Conclusion:Piracetam combined with butylphthalide soft capsules can effectively improve the cognitive impairment of the patients with LI and VCI,and the effect may be related with increasing the level of SOD.