Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic families [0.03%]
小心爷爷！三个无症状家庭中的偶然在框DMD基因缺失事件
Dorsa Kord,Victoria M Siu
Dorsa Kord
The DMD gene, the largest gene in the human genome, is particularly prone to exonic deletions or duplications due to recombination events during gametogenesis, with frameshift deletions typically seen in Duchenne muscular dystrophy (DMD) an...
Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants [0.03%]
Mulibrey 纳努症和TRIM37变异患者的新型特征——镶嵌型染色体不均衡分布现象
Anna H Hakonen,Susann Karlberg,Kirsi Kiiski et al.
Anna H Hakonen et al.
Mulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 (TRIM37) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive heart disease and predisposition to tumours...
End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes [0.03%]
诊断之旅的终点：多组织分析在肿瘤易感综合征中识别嵌合体的价值
L Damen,M F Broekema,M J Vogel et al.
L Damen et al.
Mosaicism refers to the presence of multiple cell clones with distinct genotypes arising from a single zygote. The phenotype of mosaic individuals depends on the extent of mosaicism, ranging from localised to almost generalised. We report t...
Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study [0.03%]
携带致病性CHEK2 c.1100delC变异的女性自然绝经年龄推迟：一项验证研究
Maartje A C Schreurs,Antoinette Hollestelle,Muriel A Adank et al.
Maartje A C Schreurs et al.
Background: The average age of natural menopause (ANM) for European women is 50-52 years. Reproductive risk and lifestyle factors have been found to be associated with ANM. Furthermore, a genome-wide association study fou...
Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies [0.03%]
常染色体显性疾病基因的遗传变异是胎儿结构异常的重要原因
Sarah Anne Graham,Anne McCabe,Victoria Harrison et al.
Sarah Anne Graham et al.
Background: Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal dominant disease genes have...
Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants [0.03%]
英国10万人基因组计划中家族性高胆固醇血症致病基因变异的频率：对77260名参与者的全基因组测序分析
Marta Futema,Martin Bird,Ash Haeger et al.
Marta Futema et al.
Background: Heterozygous Familial Hypercholesterolaemia (HeFH) is caused by pathogenic variants in LDLR, APOB, APOE or PCSK9, leading to elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In t...
Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience [0.03%]
型I胶原基因不确定意义变异的重新分类：国家级参考实验室的经验
Nurhaziqah Supari,Duncan Baker,Sylvia Keigwin et al.
Nurhaziqah Supari et al.
Background: The availability of large volumes of data from genetic testing has enabled the interpretation of more DNA variants, contributing to a greater number of identified variants of uncertain significance (VUS). The ...
Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension [0.03%]
扩大与MECOM相关综合症的表型谱系：罕见变异与综合征性肺动脉高压有关
Carrie L Welch,Meriel McEntagart,Shahin Moledina et al.
Carrie L Welch et al.
Background: MECOM encodes a developmental and haematopoietic transcription factor associated with a rare early-onset syndrome including bone marrow failure, skeletal and other congenital anomalies. Heterozygous de novo va...
MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect [0.03%]
MITF(p.E318K)与肾细胞癌：目前证据不支持其有影响
Valentin Yves Walker,Hong Nhung Vu,Eiríkur Steingrímsson
Valentin Yves Walker
How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC) [0.03%]
临床医生和父母报告的数据有何不同？来自横跨综合征遗传队列研究（GenROC）数据集的相似性和差异性分析
Karen Jaqueline Low,Huw Day,Mevmi Lasanya Kodippuli Thanthilla;GenROC consortium;Charlotte Davis et al.
Karen Jaqueline Low et al.
Background: Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear. ...