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A rare de novo interstitial duplication at 4p15.2 in a boy with severe congenital heart defects, limb anomalies, hypogonadism and global developmental delay

A rare de novo interstitial duplication at 4p15.2 in a boy w...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Yuan Haiming Xie Yingjun Guangzhou kingmed center for clinical laboratory Co. Ltd King Med School of Laboratory Medicine Guangzhou Medical University The third affiliated hospital of Guangzhou Medical University

Objective Proximal 4 p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafeau-lait spots, developmental delay, tall and thin habitus and intellectual disability. At present, over 20 cases of this syndrome have been reported. However, duplication of reciprocal region of proximal 4 p deletion syndrome has never been reported. Here we report a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre-and postnatal developmental delay and mild cognitive impairments. Method Chromosomal microarray analysis(CMA) and Next-generation sequencing(NGS) were employed for our patient‘s tests. Result A de novo 4.5 Mb interstitial duplication at 4 p15.2 p15.1 was detected by CMA, and NGS confirmed the duplication and revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotypes were identified, such as RBPJ, STIM2, CCKAR and LGI2 genes. Conclusion The results suggest a novel contiguous gene duplication syndrome.

关键词： CMA NGS A rare de novo interstitial duplication at 4p15.2 in a boy with severe congenital heart defects hypogonadism and global developmental delay limb anomalies

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10q26 deletion syndrome: two new cases and a review of the literature

10q26 deletion syndrome: two new cases and a review of the l...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Lin Shaobin Zhou Yi Luo Yanmin Fang Qun Chen Baojian Fetal Medicine Center Department of Obstetrics & Gynecology The First Affiliated Hospital of Sun Yat-Sen University

Objective We attempted to refine a CR for10 q26 deletion syndrome by performing a highresolution molecular analysis of two unrelated patients with pure terminal 10 q26 deletions. Method We report on two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10 q26 deletion syndrome. We compared these patients with patients with pure distal 10 q deletions described in CMA-based studies and the Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources(DECIPHER, https://***/). Result High-resolution single-nucleotide polymorphism analysis revealed that 10 q26 terminal deletions were present in these two patients. We compared the locations and sizes of the 10 q26 deletions in these two patients with the locations and sizes of 10 q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in prior studies through chromosomal microarray analysis. We also reviewed the clinical features and locations of the 10 q26 deletions of these patients in an attempt to map or refine a critical region(CR) for phenotypes. Additionally, the relationship between previously suggested CRs and phenotypic variability was discussed. Conclusion We emphasize that a distal 10 q26 terminal deletion with a breakpoint at approximately 130.0 Mb could contribute to common clinical features of 10 q26 deletion syndrome.

关键词： deletion syndrome two new cases and a review of the literature

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Development of Bead-Based Suspension Array Technology for the Diagnosis of Hereditary Hearing Loss

Development of Bead-Based Suspension Array Technology for th...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Liu Chang Zhang Liang Zhang Yan Ding Hongke Zhou Weiping Feng Defeng Zeng Yukun Liu Ling Yin Aihua Medical Genetic Centre Guangdong Women and Children Hospital Maternal and Children Metabolic-Genetic Key Laboratory Guangdong Women and Children Hospital

Objective Hearing loss is one of the most common birth defects and one of the most prevalent se nsorineural disorders. Given that hereditary hearing impairment exhibits incredible genetic hetero geneity, effective diagnostic methods are highly demanded by the clinical management. Method We developed a new diagnostic assay using the bead-based suspension array technolo gy(BBSAT), which can detect 20 point mutations in four genes of Asian prevalent hearing impair ment in parallel within 5 hours. More than 200 previously genotyped clinical samples were used t o determine the cut-off values and to validate the accuracy of new assay. Result In the BBSAT assay, suspended beads increase surface area to 3-D and more probes co ncentrated on beads. Besides, probes and targets mixed in the same mobile phase also generate better hybridization dynamics. With the multiplex PCR primer and probe design strategy, 20 point mutations in four genes of Asian prevalent hearing impairment can be simultaneously detected in a single assay. The results of BBSAT were completely in line with known genotypes, indicating th at the new diagnostic assay possesses excellent clinical sensitivity(100%) and specificity(100%) to identify genetic mutations of hearing loss. Conclusion The BBSAT is a rapid, accurate and cost-effective technology, suitable for molecular diagnosis of the hereditary hearing loss in large populations.

关键词： Development of Bead-Based Suspension Array Technology for the Diagnosis of Hereditary Hearing Loss

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Detection of fetal epigenetic biomarkers through genome-wide DNA methylation study for non-invasive prenatal diagnosis

Detection of fetal epigenetic biomarkers through genome-wide...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Gao Yue Huo Xiao-Dong Qin Li-Tao Guo Liang-Jie Liao Shi-Xiu People's Hospital of Zhengzhou University

Objective The discovery of fetal cell-free DNA(cff DNA) in maternal plasma during pregnancy pr ovides a new perspective for the development of non-invasive prenatal diagnosis(NIPD). In the la rge background of maternal DNA, the use of the cff DNA with the relatively low concentration is li mited in NIPD. Therefore, in order to overcome the complication of the large background of mater nal DNA and expand the scope of cff DNA application in clinical practice, there is a pressing nee d to find more universal fetal-specific DNA markers for the widespread clinical application of cff DNA. Method Gene Chip? Human Tiling 2.0 R Array set is used for analysis of the methylation status o f 12 placental tissue and maternal peripheral blood DNA samples in a whole-genome wide. Result 5 fetus differential hypermethylation regions and 6 fetus differential hypomethylation regio ns are selected. Moreover, to verify the 11 selected methylation regions and detect the differential Cp G sites, bisulfate direct sequencing strategy is u sed. Conclusion 87 fetal differential methylation Cp G sites are identified from 123 Cp G sites. The det ection of the fetal differential methylation DNA regions and Cp G sites may be instrumental in the development of an efficient NIPD and in the expansion of the application fields in some other di sorders.

关键词： Detection of fetal epigenetic biomarkers through genome-wide DNA methylation study for non-invasive prenatal diagnosis DNA

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A Novel Homozygous Missense Mutation and A Compound Heterozygous Frameshift Mutations of PDZD7 Gene Identified in Two Chinese Families with Nonsyndromic Hearing Loss.

A Novel Homozygous Missense Mutation and A Compound Heterozy...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Guan Jing Wang Dayong Wang Hongyang Xie Linyi Yang Ju Zhao Cui Lan Lan Yin Zifang Wang Qiuju Department of Otolaryngology-Head and Neck Surgery Chinese PLA Institute of Otolaryngology Chinese PL A General Hospital

Objective To investigate the genetic etiology of two non-consanguineous Chinese families with a utosomal recessive non-syndromic hearing loss(ARNSHL). Method Two Chinese ARNSHL families with two affected siblings were recruited in this study. Th e families were analyzed for exons, splicing sites and immediate flanking intron sequences by tar geted region capture and high throughput sequencing. Furthermore, 1751 normal Chinese individ uals served as controls and 122 Chinese families segregating apparent ARNSHL, who have been previously excluded common deafness genes, were ascertained for screening candidate mutation s. Result We identified a novel homozygous missense mutation(***66 Leu) and novel compound heterozygous frameshift mutations(***56 fs Ter24 and ***403 fs Ter36) in the both families. W e screened 1751 normal Chinese individuals and 122 unrelated Chinese families segregating app arent ARNSHL failed to detect the three confirmatory mutations. Conclusion We report novel biallelic mutations in PDZD, which is the first study to identify PDZD7 as the ARNSHL-associated gene in Chinese population. Our finding could expand the pathoge nic spectrum and strengthens the role of PDZD7 biallelic mutations cause ARNSHL.

关键词： A Novel Homozygous Missense Mutation and A Compound Heterozygous Frameshift Mutations of PDZD7 Gene Identified in Two Chinese Families with Nonsyndromic Hearing Loss

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Molecular analysis of 12 Pakistani families with non-syndromic or syndromic hearing loss

Molecular analysis of 12 Pakistani families with non-syndrom...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Wang Rongrong Han Shirui Khan Amjad Zhang Xue Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College China Medical University

Objective To investigate the causative genetic mutations in 12 Pakistani families with non-syndro mic or syndromic hearing loss Method Mutations in the commonest causative gene GJB2 were pre-excluded by Sanger sequen cing. Then, targeted next-generation sequencing or whole-exome sequencing was carried out to analyze the genomic DNA samples from the 11 prob ands with hearing loss. Sanger sequencing was performed to verify all identi?ed variants. Result We found pathogenic or likely to be pathogenic mutations in all 12 families, including six k nown mutations in GJB2, SLC26 A4, LHFPL5, or USH2 A and eight novel mutations in ESPN, MY O7 A, LRTOMT, PCDH15, USH2 A or EPS8 L2. Notably, four compound heterozygous mutations i n the MYO7 A and USH2 A genes were detected in two consanguineous families, respectively. In addition, the novel frameshift mutation in EPS8 L2 was first documented in Pakistan. Conclusion Our study has increased the spectrum of mutations associated with hearing loss in t he Pakistani population. In addition, our study highlights the possibility of rare occurrences of com pound heterozygous mutations in consanguineous families.

关键词： GJB Molecular analysis of 12 Pakistani families with non-syndromic or syndromic hearing loss

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Alternatively spliced products lacking exon 12 dominate the expression of fragile X mental retardation 1 gene in human tissues

Alternatively spliced products lacking exon 12 dominate the ...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Fu Xianguo Department of Medical Genetics Fuzhou General Hospital

Objective Fragile X mental retardation 1 gene(FMR1) expression is associated with fragile X syn drome(FXS) and exhibits several splicing products. However, the proportion of spliced isoforms t hat are expressed in different tissues remains *** In the present study, long-chain reverse transcription-polymerase chain reaction with a T cloning-sequencing method was conducted in order to analyze the entire coding region of the FM R1 gene in human tissues. In particular, FXS-associated tissues were analyzed, including the brai n and testis. Result Twenty alternatively spliced isoforms were observed among 271 recombinants, including six novel ones. The isoform that consisted of the entire FMR1 coding region(ISO1) accounted for a small proportion of all isoforms. Isoforms lacking exon 12 were the most abundant. In particular, spliced isoforms ISO7 and ISO17 were the most abundant. However, their relative abundance va ried between the peripheral blood cells, and the testis and brain tissues. Bioinformatic analyses s uggested that exon 12 may be the sole exon undergoing positive selection. The results of the pre sent study suggested that the mechanisms underlying alternative splicing(AS) of the FMR1 gene may be more complex. Furthermore, the functions of alternatively spliced products lacking exon 12 require further investigation. Conclusion The results of the present study provide novel insights into the association between AS and the structure and function of the FMR1 gene.

关键词： Alternatively spliced products lacking exon 12 dominate the expression of fragile X mental retardation 1 gene in human tissues

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The parental-of-origin of de novo pathogenic copy number variations related to intellectual disability and other congenital birth defects

The parental-of-origin of de novo pathogenic copy number var...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Ma Ruiyu Deng Linbei Xia Yan Wei xianda Cao Yingxi Guo Ruolan Zhang Rui Guo Jing Liang Desheng Wu Lingqian State Key Laboratory of Medical Genetics Central South University

Objective Objective: Through tracing the parental origin of de novo pathogenic CNVs, we are expected to investigate the relative contributions of germline genomic stability on reproductive health and provide the theoretical foundation for the prevention of congenital birth defects. Method Methods: Two genetic markers including short tandem repeat(STR) and single nucleotide polymorphism(SNP) were used to determine the parental-of-origin of 82 de novo pathogenic CNVs found in patients with intellectual disability and other congenital birth defects. Result Results: Among the deletions, there are 41 CNVs with paternal allele loss and 22 CNVs with maternal allele loss. Among the duplications, there are 11 CNVs with heterologous maternal allele duplication, 3 CNVs with homologous maternal allele duplication, 3 CNVs with heterologous paternal allele duplication and 2 CNVs with homologous paternal allele duplication. Chi-square test(p < 0.05) indicated the distribution of the parental-of-origin varied by different CNVs types. Conclusion Conclusions: The study indicated an apparently paternal bias existed in copy number losses and a maternal bias in copy number gains. This means the relative contribution of paternal germline variations is larger than maternal in the process of deletions, and that maternal germline variations contributes more to duplications.

关键词： The parental-of-origin of de novo pathogenic copy number variations related to intellectual disability and other congenital birth defects origin

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A novel insertion mutation in the ATP7A gene associated with delayed infantile onset of Menkes disease

A novel insertion mutation in the ATP7A gene associated with...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Li Wugao Yan Tizhen Tang Ning Li Zhetao Huang Jiwei Tan Jianqiang Pan Lizhen Cai Ren Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective Determining the relationship between clinical phenotype and genotype in genetic disea ses is important in clinical practice. In general, frameshift mutations are expected to produce pre mature termination codons, leading to production of mutant transcripts destined for degradation b y nonsense-mediated decay. In X-linked recessive diseases, male patients with frameshift mutati ons typically have a severe or even lethal phenotype. Method We report a case of a 22-month-old boy patient with Menkes disease, an X-linked recess ive copper metabolism disorder, caused by mutations in the ATP7 A copper transporter gene. His clinical presentation involved unexpecte dly late onset and milder symptoms. Result His genomic DNA showed a de novo insertion mutation(c.1036 ins T) in ATP7 A gene, pred icting a translational frameshift and premature stop codon, and a classic severe phenotype. Char acterization of his ATP7 A m RNA showed no abnormal splicing. Conclusion We speculated that translation re-initiation could occur downstream of the premature termination codon, and produce a partially functional ATP7 A protein. Study of the patient‘s fibrobl asts found no evidence of translation reinitiation, however the possibility remains that this pheno menon occurred in neural tissues and influenced the clinical phenotype.

关键词： ATP A novel insertion mutation in the ATP7A gene associated with delayed infantile onset of Menkes disease

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Detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene

Detection and genetic counseling in carriers of spinal muscu...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Yan Tizhen Tang Ning Luo Shiqiang Huang Jiwei Tan Jianqiang Li Zhetao Li Wugao Wang Yuanliu Cai Ren Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective Spinal muscular atrophy(SMA) is an autosomal recessive disease caused by mutation s in the survival motor neuron1 gene(SMN1). Global carrier frequency is around 1 in 50 and carri er detection is crucial to define couples at risk to have SMA offspring. Most SMA carriers have on e SMN1 copy and are currently detected using quantitative methods. A few, however, have two SMN1 gen es in cis(2/0 carriers), complicating carrier diagnosis in SMA. Method We detected 2/0 carriers from a cohort of 1328 individuals, including SMA parents, SMA relatives, and unrelated individuals of the general population, by multiplex ligationdependent prob e amplification(MLPA) methodology and haplotype analysis. Result In two couples who had an SMA child, both the parents had two SMN1 copies. Conclusion Our results emphasize the importance of performing a detailed carrier study in SMA parents with two SMN1 copies. Expanding the analysis to other key family members might confir m potential 2/0 carriers. When a partner of a known carrier presents two SMN1 copies, the study of both parents will provide a more accurate diagnosis, thus optimizing genetic counseling.

关键词： SMN Detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene SMA

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