UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants [0.03%]
英国临床实践指南：针对具有遗传性POT1致病变异患者的管理
Olga Tsoulaki,D Gareth Evans,Khushboo Sinha et al.
Olga Tsoulaki et al.
Constitutional or germline pathogenic variants (GPVs) in protection of telomeres 1 (POT1) are associated with a variety of tumours resulting in the recognition of POT1-tumour predisposition syndrome (POT1-TPDS). These tumours may include cu...
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss [0.03%]
SLC26A4相关性听力损失中重新分类的候选剪接变异体可改进具有临床冲突解释的结果
Yue Liang,Shubin Fang,Xiaoqing Cen et al.
Yue Liang et al.
Purpose: Variants in the human SLC26A4 gene are a major cause of hereditary hearing loss. Many splice site variants have been identified, but their pathogenicity is not well understood. ...
Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations [0.03%]
新的NUP107双等位基因变异影响核孔复合物并扩大临床谱系以包括脑畸形
Loisa Dana Bonde,Laura Hecher,Malik Alawi et al.
Loisa Dana Bonde et al.
Biallelic variants in NUP107 cause isolated or syndromic steroid-resistant nephrotic syndrome (SRNS), characterised by proteinuria, hypoalbuminaemia and focal segmental glomerulosclerosis that progresses to end-stage renal disease. Patients...
Xiao-Yun Lei,Meng-Wen Zhang,Hui Sun et al.
Xiao-Yun Lei et al.
Background: The microtubule actin crosslinking factor 1 (MACF1) gene encodes microtubule-microfilament cross-linking factor 1 that plays an essential role in the embryonic brain development. MACF1 variants were associated...
Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes [0.03%]
基于电子健康记录的家系癌症综合征发病风险个体识别系统登记研究
Vinit Singh,Thomas E Rafter,Mohamad Sharbatji et al.
Vinit Singh et al.
Background: Despite well-established criteria for genetic testing to rule out hereditary cancer syndromes (HCSs), most pathogenic variant (PV) carriers are not being tested. Thus, mechanisms that allow for better identifi...
Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis [0.03%]
FNDC1罕见错义变异与严重青少年特发性脊柱侧凸相关
Wu-Lin Charng,Gabe Haller,Julia Whittle et al.
Wu-Lin Charng et al.
Background: Scoliosis is the most common paediatric spinal deformity. More than 80% of scoliosis is idiopathic and appears during the adolescent growth spurt. Spinal fusion surgery is often required for patients with prog...
Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes [0.03%]
DYNC2H1相关短肋胸发育不良的表型异质性：产前指标和产后结果
Nikhil Pattani,Nour Elkhateeb,Aakash Joshi et al.
Nikhil Pattani et al.
Introduction: DYNC2H1-related short-rib thoracic dysplasia with/without polydactyly (SRTD), formerly asphyxiating thoracic dystrophy-Jeune syndrome, is a rare genetic skeletal disorder characterised by a narrow thorax, sh...
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis [0.03%]
优化FSHD基因座的分子检测方法：利用单分子光学图谱和Southern印迹分析进行综合流程研究
Joowon Jang,Hobin Sung,Jung-Ae Lee et al.
Joowon Jang et al.
Purpose: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder caused by contraction or hypomethylation of the D4Z4 repeat array located at chromosome 4q35. For the disease to manifest, a permissive haplotyp...
Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes [0.03%]
较高的对照群体等位基因频率对癌症易感基因损失功能变异分类的影响研究
Miriam J Smith,George J Burghel,D Gareth Evans
Miriam J Smith
A query was sent to the cancer predisposition gene variant database Cancer Variant Interpretation Group UK, on the nonsense variant in NM_032043.3(BRIP1):c.2392C>T,p.(Arg798Ter). The submitter classified this as a variant of uncertain signi...
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study [0.03%]
遗传性乳腺癌和卵巢癌基因检测女性的个性化与传统风险评估的经济学评价建模研究
Qin Xi,Nichola Fennell,Stephanie Archer et al.
Qin Xi et al.
Background: The management of women with germline pathogenic variants (GPVs) in breast (BC) and ovarian cancer (OC) susceptibility genes is focused on surveillance and risk-reducing surgery/medication. Most women are assi...