Chromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA resul...Chromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon.We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6%(59 out of 434). This gave a detection rate of 14.7%for developmental delay/intellectual disability(DD/ID,38/259) and 12% for autism spectrum disorders(ASDs,21/175). Thirty-three recurrent(n≥2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes(such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes).The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results(94.9%) had benefits, allowing earlier diagnosis(36/59), prioritized full clinical management(28/59), medication changes(7/59), a changed prognosis(30/59), and prenatal genetic counseling(15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental potential.We advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility.展开更多
A total of 1,160 differentially expressed genes induced by Marssonina brunnea f. sp. muhigermtubi were identified in Populus deltoides cv. ＇Lux＇ （1-69/55） with two-colour cDNA microarray including 2,952 cDNAs from...A total of 1,160 differentially expressed genes induced by Marssonina brunnea f. sp. muhigermtubi were identified in Populus deltoides cv. ＇Lux＇ （1-69/55） with two-colour cDNA microarray including 2,952 cDNAs from two cDNA libraries constructed with 72 h inoculated poplar leaves. Functional analysis showed that 1,160 genes were classified into 11 functional categories that are involved in metabolism （15.9%）, signal transduction （9.5%）, transcription and replication （8.7%）, and cell rescue and defense （7.8%）. Among them, 926 genes were sporadically localized on 19 linkage groups. Chromosome 2 contained 102 （11%） differentially expressed genes, followed by chromosome 1 which contains 93 genes （10%）, and chromosome 17 had the least number of differentially expressed genes. Clustering of expressed sequence tags （ESTs） in poplar genome was observed at the terminal regions of several chromosomes. The relationship between cluster of genes and plant defense response would be further studied.展开更多
基金supported by grants from the National Natural Science Foundation of China (81761128035 and 81781220701)the Shanghai Municipal Science and Technology Committee (17XD1403200 and 18dz2313505)+2 种基金the Research Physician Project of Shanghai Municipal Education Commission (20152234)the Shanghai Municipal Health and Family Planning Commission (GDEK201709, 2017ZZ02026, and 2017EKHWYX02)the Scientific Program of Shanghai Shenkang Hospital Development Center (16CR2025B) of China
文摘Chromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon.We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6%(59 out of 434). This gave a detection rate of 14.7%for developmental delay/intellectual disability(DD/ID,38/259) and 12% for autism spectrum disorders(ASDs,21/175). Thirty-three recurrent(n≥2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes(such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes).The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results(94.9%) had benefits, allowing earlier diagnosis(36/59), prioritized full clinical management(28/59), medication changes(7/59), a changed prognosis(30/59), and prenatal genetic counseling(15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental potential.We advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility.
基金National Natural Science Foundation of China (No. 30230300).
文摘A total of 1,160 differentially expressed genes induced by Marssonina brunnea f. sp. muhigermtubi were identified in Populus deltoides cv. ＇Lux＇ （1-69/55） with two-colour cDNA microarray including 2,952 cDNAs from two cDNA libraries constructed with 72 h inoculated poplar leaves. Functional analysis showed that 1,160 genes were classified into 11 functional categories that are involved in metabolism （15.9%）, signal transduction （9.5%）, transcription and replication （8.7%）, and cell rescue and defense （7.8%）. Among them, 926 genes were sporadically localized on 19 linkage groups. Chromosome 2 contained 102 （11%） differentially expressed genes, followed by chromosome 1 which contains 93 genes （10%）, and chromosome 17 had the least number of differentially expressed genes. Clustering of expressed sequence tags （ESTs） in poplar genome was observed at the terminal regions of several chromosomes. The relationship between cluster of genes and plant defense response would be further studied.
