Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder [0.03%]
CNKSR2基因新型突变的鉴定及其与Houge型X连锁智力发育障碍的相关性研究
Anil Kumar,Ajay Kumar,Chandraniv Dey et al.
Anil Kumar et al.
Neurological disorders with overlapping phenotypes pose significant diagnostic challenges, especially the ones that occur on account of rare genetic variants. We hereby report a case of a 16-year-old male with clinical symptoms of severe in...
SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort [0.03%]
脊髓性肌萎缩症中国人群SMN1基因突变分布及新型突变的功能分析
Gui-He Li,Li-Wen Wu,Jing Li et al.
Gui-He Li et al.
Spinal muscular atrophy is the most common fatal neurogenetic disorder in infancy and early childhood, caused by insufficient expression of SMN protein due to mutations in the survival motor neuron 1 (SMN1) gene. In this study, we describe ...
Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort [0.03%]
胚胎发育和细胞信号转导基因的罕见变异在综合征性和非综合征性唇腭裂中的证据：哥伦比亚加勒比队列的研究
Alejandro Silva,Carolina Jaramillo Oquendo,Jaime E Bernal et al.
Alejandro Silva et al.
Orofacial clefts (OFCs) are common craniofacial malformations broadly classified as syndromic or non-syndromic. While syndromic OFCs are often caused by rare, high-impact variants, non-syndromic OFCs are typically associated with multiple l...
Clinical and imaging characteristics of NOTCH3-negative CADASIL-suspected patients with NOTCH2NLC GGC repeat expansions [0.03%]
NOTCH3阴性疑似CADASIL患者的临床和影像特征及其与NOTCH2NLC GGC重复扩增的关系
Hiraku Matsuura,Daiki Fukunaga,Ikuko Mizuta et al.
Hiraku Matsuura et al.
Neuronal intranuclear inclusion disease (NIID) is an autosomal dominant inherited neurodegenerative disease caused by NOTCH2NLC GGC repeat expansions. A high-intensity signal in the corticomedullary junction (CMJ) on magnetic resonance (MR)...
A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications [0.03%]
Grange综合征YY1AP1复合杂合突变新型变异：早期症状在预防危及生命的血管并发症中的重要性
Gul Unsel-Bolat,Neslihan Tezcan,Dilan Genç-Akdağ et al.
Gul Unsel-Bolat et al.
Background: Grange syndrome is an ultra-rare autosomal recessive disorder caused by biallelic loss-of-function variants in the YY1AP1 gene. It is clinically characterized by multisystem involvement, including vascular ste...
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells [0.03%]
基于尿源细胞转录组分析鉴定异常基因表达开展的两例同胞遗传诊断
Toru Takagi,Sachiko Miyamoto,Kenji Shimizu et al.
Toru Takagi et al.
Transcriptome analysis can improve the diagnostic yield for neurodevelopmental disorders. We applied RNA-seq using urine-derived cells (UDCs) to a family with two affected brothers with a muscular dystrophy-dystroglycanopathy and dilated ca...
Interaction between human oxoguanine glycosylase 1 gene polymorphisms and smoking status on nasopharyngeal carcinoma risk [0.03%]
人源氧化鸟嘌呤-DNA糖基化酶1基因多态性与吸烟状态交互作用对鼻咽癌发病风险的影响研究
Fanyu Peng,Ruru Zhang,Rong Yu et al.
Fanyu Peng et al.
This study aims to evaluate the impact of four SNPs of human 8-oxoguanine DNA glycosylase 1 (hOGG1) gene, and its interaction with smoking and alcohol drinking on the risk of nasopharyngeal carcinoma (NPC). Hardy-Weinberg equilibrium (HWE) ...
Allelic variation in the ATP7B gene promoter. Implications for phenotype variability, neurodegeneration and Pt resistance in tumor diseases [0.03%]
ATP7B基因启动子的等位变异。对表型变化、神经退行性病变和肿瘤疾病中Pt抗性的启示
Simona Incollu,Isadora Asunis,Stefania Satta et al.
Simona Incollu et al.
Wilson's disease (WD) is a rare genetic disorder of copper transport due to mutations in the ATP7B gene. This results in copper overload and tissue damage that is most evident in the liver and brain. Over 1000 pathogenic mutations have been...
Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing [0.03%]
接受多基因检测的癌症患者家属的心理压力和患癌担忧
Kaori Kimura,Takeshi Kuwata,Yumie Hiraoka et al.
Kaori Kimura et al.
Multigene panel testing (MGPT) is increasingly used for diagnosing hereditary cancers; however, its application in cascade testing remains limited, and the psychological impact on unaffected relatives is not well understood. This multicente...
Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy [0.03%]
LAMA2相关障碍表型谱的扩展：无肌肉萎缩性疾病的轴索神经病
Mahsa Mohammadi,Mahdieh Rahimoghli,Aida Ghasemi et al.
Mahsa Mohammadi et al.
The LAMA2 gene encodes the alpha-2 chain of laminin-2, a key component of the basement membrane that maintains muscle fiber stability and integrity. Mutations in this gene are linked with LAMA2-related muscular dystrophies, which includes c...