Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant [0.03%]
与X连锁的AIFM1变异相关的严重多系统病变、代谢性酸中毒、线粒体功能障碍和早期死亡
Tonya Moss,Melanie May,Heather Flanagan-Steet et al.
Tonya Moss et al.
Variants in the X-linked gene AIFM1 (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impai...
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay [0.03%]
ERF和CIC基因的缺失导致颅骨形态异常和全球发育迟缓
Ram Singh,Ana S A Cohen,Cathryn Poulton et al.
Ram Singh et al.
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis...
Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis [0.03%]
肿瘤中的肿瘤的转归：慢性淋巴细胞白血病（CLL）的监测导致发现了一例肺癌，其基因组表征改变了最初的血液系统诊断
Panieh Terraf,Lynette M Sholl,Matthew S Davids et al.
Panieh Terraf et al.
Comprehensive characterization of somatic genomic alterations has led to fundamental shifts in our understanding of tumor biology. In clinical practice, these studies can lead to modifications of diagnosis and/or specific treatment implicat...
Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome [0.03%]
掩人耳目的是先天性又聋又瞎的基因突变并不总是Usher综合征
Genevieve Medina,Julia Perry,Andrea Oza et al.
Genevieve Medina et al.
Hearing loss (HL) is the most common congenital sensory impairment. Usher syndrome (USH) is the leading genetic etiology of congenital deafness combined with progressive vision loss, and individuals presenting with these symptoms are often ...
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1 [0.03%]
CHAMP1基因病理性变异个体中的神经发育表型
Madison Garrity,Haluk Kavus,Marta Rojas-Vasquez et al.
Madison Garrity et al.
De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1), which encodes kinetochore-microtubule associated protein on 13q34, cause a rare neurodevelopmental disorder. We enrolled 14 individuals with pathogen...
Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant [0.03%]
CHEK2基因纯合变异患者慢性粒单细胞白血病和B淋巴母细胞急性淋巴细胞白血病的克隆起源分析
Alexandre Bazinet,John Heath,Anne-Sophie Chong et al.
Alexandre Bazinet et al.
Hematological malignancies are broadly divided into myeloid and lymphoid neoplasms, reflecting the two major cellular lineages of the hematopoietic system. It is generally rare for hematological malignancies to spontaneously progress with a...
Kiely N James,Megan Lau,Katayoon Shayan et al.
Kiely N James et al.
Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or without urinary system involvement. Pathogenic missense variation in smooth muscle γ-actin gene (ACTG2) i...
Assessing acquired resistance to IDH1 inhibitor therapy by full-exon IDH1 sequencing and structural modeling [0.03%]
通过全外显子IDH1测序和结构建模评估对IDH1抑制剂治疗获得性抵抗的影响
Zoltán N Oltvai,Susan E Harley,David Koes et al.
Zoltán N Oltvai et al.
Somatic mutations in hotspot regions of the cytosolic or mitochondrial isoforms of the isocitrate dehydrogenase gene (IDH1 and IDH2, respectively) contribute to the pathogenesis of acute myeloid leukemia (AML) by producing the oncometabolit...
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies [0.03%]
急性巨核细胞白血病相关肿瘤的基因组表征的临床影响
Emilie Lalonde,Stefan Rentas,Gerald Wertheim et al.
Emilie Lalonde et al.
Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia but is approximately 500 times more likely to develop in children with Down syndrome (DS) through transformation of transient abnormal myelopoiesis (TAM). Th...
Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation [0.03%]
墨西哥裔美国人家庭中的博厄姆综合征与横纹肌肉瘤及墨西哥祖先突变证据
Erin H Sybouts,Adam D Brown,Maria G Falcon-Cantrill et al.
Erin H Sybouts et al.
Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and a predispositi...