A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant [0.03%]
两个莱格综合征疾病基因纯合终止变异患者的特征：双重诊断与低倍体蛋白质截短变异的区别
Nicole J Lake,Luke E Formosa,David A Stroud et al.
Nicole J Lake et al.
Leigh syndrome is a mitochondrial disease caused by pathogenic variants in over 85 genes. Whole exome sequencing of a patient with Leigh-like syndrome identified homozygous protein-truncating variants in two genes associated with Leigh synd...
Case Reports
Human mutation. 2019 Jul;40(7):893-898. DOI:10.1002/humu.23753 2019
Alban Ziegler,Estelle Colin,David Goudenège et al.
Alban Ziegler et al.
The pLI score reflects the tolerance of a given gene to the loss of function on the basis of the number of protein truncating variants, that is, the frameshift, splice donor, splice acceptor, and stop-gain variants referenced for this gene ...
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach [0.03%]
视锥蛋白未知意义变异的特征描述：一种功能基因组学的方法
Aliete Wan,Emily Place,Eric A Pierce et al.
Aliete Wan et al.
Characterizing the pathogenicity of DNA sequence variants of unknown significance (VUS) is a major bottleneck in human genetics, and is increasingly important in determining which patients with inherited retinal diseases could benefit from ...
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits [0.03%]
罕见SLC2A2变异体与范可尼-毕克病和代谢特征的功能和结构分析
Osatohanmwen J Enogieru,Peter M U Ung,Sook Wah Yee et al.
Osatohanmwen J Enogieru et al.
Deleterious variants in SLC2A2 cause Fanconi-Bickel Syndrome (FBS), a glycogen storage disorder, whereas less common variants in SLC2A2 associate with numerous metabolic diseases. Phenotypic heterogeneity in FBS has been observed, but its c...
Mariann Kasela,Minna Nyström,Minttu Kansikas
Mariann Kasela
PMS2 is one of the four susceptibility genes in Lynch syndrome (LS), the most common cancer syndrome in the world. Inherited mutations in DNA mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, account for approximately 90% of LS, while a re...
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies [0.03%]
表观遗传修饰异常与硒蛋白N相关肌病发病机制的关系研究
Christoph Bachmann,Faiza Noreen,Nicol C Voermans et al.
Christoph Bachmann et al.
Congenital myopathies are early onset, slowly progressive neuromuscular disorders of variable severity. They are genetically and phenotypically heterogeneous and caused by pathogenic variants in several genes. Multi-minicore Disease, one of...
p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy [0.03%]
髓样甲状腺癌中的RET基因突变p.Ser891Ala：对意大利北部28个表征无关家系的临床、病理及谱系特征分析以及共同祖先起源效应的发现
Mara Giacché,Alessandra Panarotto,Maria Chiara Tacchetti et al.
Mara Giacché et al.
Applying genetic screening in medullary thyroid cancer (MTC) patients we identified an unexpectedly high frequency of c.2671T>G, p.Ser891Ala RET mutation carriers. Our aim was to: (a) deeply characterize the clinical expression of this muta...
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42 [0.03%]
双等位RTTN外显子42跳跃剪接所致成人小头畸形、原发性侏儒和短指症
Muhammad Zakaria,Ambrin Fatima,Joakim Klar et al.
Muhammad Zakaria et al.
Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations. To date, no reported case ...
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype [0.03%]
MYH7和MYBPC3双等位基因突变导致左心室非复叠性心肌病严重表型
Konstantinos Kolokotronis,Jirko Kühnisch,Eva Klopocki et al.
Konstantinos Kolokotronis et al.
Dominant mutations in the MYH7 and MYBPC3 genes are common causes of inherited cardiomyopathies, which often demonstrate variable phenotypic expression and incomplete penetrance across family members. Biallelic inheritance is rare but allow...
TP63-truncating variants cause isolated premature ovarian insufficiency [0.03%]
TP63截短型变异导致孤立性早发性卵巢功能不全
Elena J Tucker,Sylvie Jaillard,Sonia R Grover et al.
Elena J Tucker et al.
Premature ovarian insufficiency involves amenorrhea and elevated follicle-stimulating hormone before age 40, and its genetic basis is poorly understood. Here, we study 13 premature ovarian insufficiency (POI) patients using whole-exome sequ...