9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature [0.03%]
涉及CDKN2A / 2B的9p21.3微缺失与年轻多原发肿瘤患者的文献综述
Marlene Richter Jensen,Ulrik Stoltze,Thomas Van Overeem Hansen et al.
Marlene Richter Jensen et al.
Germline pathogenic variants in CDKN2A predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, whereas CDKN2B variants are associated with renal cell carcinoma. A few case reports have described heter...
Hans-Hilger Ropers,Clara D van Karnebeek
Hans-Hilger Ropers
After a long and largely disappointing detour, Genome Research has reidentified Rare Diseases as a major opportunity for improving health care and a clue to understanding gene and genome function. In this Special Issue of CSH Molecular Case...
Personalized medicine for rare neurogenetic disorders: can we make it happen? [0.03%]
罕见神经遗传障碍的个体化医疗：我们能做到吗？
Agnies M van Eeghen,Hilgo Bruining,Nicole I Wolf et al.
Agnies M van Eeghen et al.
Rare neurogenetic disorders are collectively common, affecting 3% of the population, and often manifest with complex multiorgan comorbidity. With advances in genetic, -omics, and computational analysis, more children can be diagnosed and at...
A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome [0.03%]
具有Li-Fraumeni综合征儿童中TP53的新颖串联重复拷贝变异
Feng Xu,Erfan Aref-Eshghi,Jinhua Wu et al.
Feng Xu et al.
Li-Fraumeni syndrome (LFS) is one of the most common cancer predisposition syndromes that affects both children and adults. Individuals with LFS are at an increased risk of developing various types of cancer over their lifetime including so...
Rachel Alvarez
Rachel Alvarez
My underlying diagnosis since birth was congenital muscular dystrophy not otherwise specified Being born in 1970 meant that there were no genetic testing, no standards of care, and no true understanding of the pathology that separates one c...
Stephen B Montgomery,Jonathan A Bernstein,Matthew T Wheeler
Stephen B Montgomery
In the past 5 years transcriptome or RNA-sequencing (RNA-seq) has steadily emerged as a complementary assay for rare disease diagnosis and discovery. In this perspective, we summarize several recent developments and challenges in the use of...
Curtis R Coughlin nd,Laura A Tseng,Clara D M van Karnebeek
Curtis R Coughlin nd
Pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epileptic encephalopathy. Pharmacologic doses of pyridoxine are associated with dramatic clinical seizure improvement, and most ...
Stephen F Kingsmore
Stephen F Kingsmore
The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals-the theme of this special issue. Here I briefly review recent developments in ...
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification [0.03%]
一例轻型钠依赖性多种维生素转运蛋白(SMVT)缺乏症说明治疗反应在变异分类中的重要性
Ingeborg Hauth,Hans R Waterham,Ronald J A Wanders et al.
Ingeborg Hauth et al.
Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-responsive inherited metabolic disorder (IMD) of which the phenotypic spectrum and response to treatment remains to be elucidated. So far, four...
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome [0.03%]
线粒体DNA新变异M.3685T＞C导致莱吉恩病
Jeffrey Jean,Eirini Christodoulou,Xiaowu Gai et al.
Jeffrey Jean et al.
Variants in the mitochondrial genome can result in dysfunction of Complex I within the electron transport chain, thus causing disruptions in oxidative phosphorylation. Pathogenic variants in the MT-ND1 (NADH:ubiquinone oxidoreductase core s...