Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11 [0.03%]
全基因组测序鉴定到两名遗传性痉挛截瘫患者的SPG11新剪接供体变异及已知致病突变
Allen Chi-Shing Yu,Anne Yin-Yan Chan,Wing Chi Au et al.
Allen Chi-Shing Yu et al.
Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, n...
Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease [0.03%]
外显子组测序揭示了一例Lhermitte-Duclos病成人患者的生殖细胞期EGFR基因获得功能突变
Samantha Colby,Lamis Yehia,Farshad Niazi et al.
Samantha Colby et al.
Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline PTEN mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type...
Max Dougherty,John Lazar,Jason C Klein et al.
Max Dougherty et al.
Adult-onset Niemann-Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in NPC1 (∼95%) or NPC2 (∼5%). Our patient was diagnosed at age 33...
Analysis of intrapatient heterogeneity uncovers the microevolution of Middle East respiratory syndrome coronavirus [0.03%]
分析患者体内异质性揭示中东呼吸综合征冠状病毒的微观进化规律
Donghyun Park,Hee Jae Huh,Yeon Jeong Kim et al.
Donghyun Park et al.
Genome sequence analysis of Middle East respiratory syndrome coronavirus (MERS-CoV) variants from patient specimens has revealed the evolutionary dynamics and mechanisms of pathogenesis of the virus. However, most studies have analyzed the ...
Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification [0.03%]
整合基因组学和组织病理学可修订无法诊断的难治性原发未知癌症并通过PD-L1扩增实施有效治疗
Stefan Gröschel,Martin Bommer,Barbara Hutter et al.
Stefan Gröschel et al.
Identification of the tissue of origin in cancer of unknown primary (CUP) poses a diagnostic challenge and is critical for directing site-specific therapy. Currently, clinical decision-making in patients with CUP primarily relies on histopa...
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features [0.03%]
从头预测的有害变异与发育迟缓、智力障碍、肥胖和畸形特征相关联
Emily Webster,Megan T Cho,Nora Alexander et al.
Emily Webster et al.
Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with...
Robert Kleyner,Janet Malcolmson,David Tegay et al.
Robert Kleyner et al.
KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underd...
SCN8A mutation in a child presenting with seizures and developmental delays [0.03%]
一名以癫痫发作和发育迟缓为表现的儿童中的SCN8A基因突变
Janet Malcolmson,Robert Kleyner,David Tegay et al.
Janet Malcolmson et al.
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation ...
Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs [0.03%]
CHEK2纯合子失活与多原发性肺癌家族病例相关联以及其他器官的伴随癌症
Yoji Kukita,Jiro Okami,Noriko Yoneda-Kato et al.
Yoji Kukita et al.
In clinical practice, there are a number of cancer patients with clear family histories, but the patients lack mutations in known familial cancer syndrome genes. Recent advances in genomic technologies have enhanced the possibility of ident...
Evolution of a FLT3-TKD mutated subclone at meningeal relapse in acute promyelocytic leukemia [0.03%]
急性早幼粒细胞白血病脑膜复发亚克隆FLT3-TKD突变的进化
Tilmann Bochtler,Stefan Fröhling,Wilko Weichert et al.
Tilmann Bochtler et al.
Here, we report the case of an acute promyelocytic leukemia (APL) patient who-although negative for FLT3 mutations at diagnosis-developed isolated FLT3 tyrosine kinase II domain (FLT3-TKD)-positive meningeal relapse, which, in retrospect, c...