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Objective:To analyze the clinical characteristics and genetic variation of 2 children with developmental and epileptic encephalopathy 8 (DEE8).Methods:Whole-exome sequencing (WES) was performed to determine the potential variants in the probands. Candidate variants identified by WES were validated by Sanger sequencing and quantitative real-time polymerase chain reaction. X chromosome inactivation (XCI) detection was performed in the proband 1′s mother and proband 2 to detect the allelic expression difference of ARHGEF9. Results:Both of the cases showed global developmental delay. Proband 1 presented with delayed motor and speech development, intellectual disability, and seizures. Electroencephalography of proband 1 showed slow background activity, with spikes, spike and waves in bilateral frontal and midline regions during sleep. While proband 2 showed delay in acquisition of language, motor skills, and cognition, but no seizures. It was identified that proband 1 carried a novel maternally derived heterozygous splicing variant (c.925-2A>T) in ARHGEF9 by WES, which was verified in Sanger sequencing. The XCI in proband 1′s mother was observed, and the expression ratio of mutant ARHGEF9 and wild-type was 0∶100%. A novel exon 3-10 heterozygous deletion of ARHGEF9 was identified in proband 2, and this variant was not found in his unaffected parents. Conclusions:DEE8 disorders are relatively rare. Most of the patients have varying degrees of neurodevelopmental phenotype, but epilepsy is not a specific clinical manifestation. ARHGEF9 gene deletion and splicing variation may be the genetic cause of the 2 probands, and above findings have enriched the spectrum of variation and phenotype of DEE8.
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Objective To investigate the present situation of quality of life in the elderly residents aged more than 60 years in Zhanjiang city and to analyze its influence factors .Methods 418 elderly residents over 60 years sampled by the random sampling in Zhanjiang city were performed the questionnaire survey by using the Chinese Scale of World Health Organization QOL (WHOQOL-BREF) .Results The quality of life in the physical ,psychological and environmental fields in male residents was higher than that in the female residents ;which in the psychological and environmental fields in the high cultural level residents was higher than that in the low cultural level residents ;which in the social relations field in the high income residents was higher than that in the low in-come residents ;there were no statistical differences in the quality of life among the elderly residents with different occupations be-fore retirement and marital status ;the Logistic regression analysis showed that gender and occupation were the influence factors of quality of life self evaluation in elderly residents .Conclusion Gender ,occupation ,educational level and income level are the influ-ence factors of quality of life in elderly residents .