Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants [0.03%]
DSPP基因变异型导致的牙本质发育不全的诊断复杂性
Gaétan Caravello,Alexandra Jiménez-Armijo,Marzena Kawczynski et al.
Gaétan Caravello et al.
Background: Variants in the dentin sialophosphoprotein (DSPP) gene are associated with dentin dysplasia type II (DD-II; OMIM # 125420) and dentinogenesis imperfecta (DI) types II (OMIM # 125490) and III (OMIM # 125500). D...
MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans [0.03%]
MGRN1与心脏和左右异位缺陷相关联：人类中的首个基因型-表型报告
Laura Kasak,Kristiina Rull,Anu Valkna et al.
Laura Kasak et al.
Recurrent idiopathic severe fetal structural anomalies present major challenges for reproductive decision-making and genetic counselling. A non-consanguineous healthy Estonian couple had experienced two electively terminated pregnancies at ...
Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies [0.03%]
来自GENCOV和HostSeq的COVID-19基因组测序研究的重要DNA变异
Erika Frangione,Radhika Mahajan,Juan De Los Rios et al.
Erika Frangione et al.
Background: Vast amounts of genome sequencing data generated from large-scale research studies like HostSeq provide an opportunity to summarise the spectrum of pathogenic variation in a subset of the Canadian population. ...
Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation [0.03%]
纳米孔自适应采样测序检测平衡易位效率评估
Meng Gao,Jun Ren,Cuiting Peng et al.
Meng Gao et al.
Background: Balanced translocation (BT) carriers have a high risk of recurrent miscarriage and abnormal offspring due to unbalanced gamete production. Clinical genetic testing often fails to detect BTs that fall below mic...
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome [0.03%]
对一组较大的法国患者Potocki-Lupski综合征表型的描述
Alicia Coudert,Pauline Le Tanno,William Dufour et al.
Alicia Coudert et al.
Background: Potocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion ...
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...