Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features [0.03%]
PAX6新突变致眼科、胰腺及嗅觉表型家族遗传病的研究
Kristen L Buehne,Sarah Hart,Bradley Williams et al.
Kristen L Buehne et al.
Variants in the PAX6 gene have been associated with ophthalmologic, neurologic, and pancreatic differences. We report on a proband, mother, and affected brother who presented with congenital cataracts and glaucoma at a young age. Nonocular ...
Leslie G Biesecker
Leslie G Biesecker
Two papers in this special issue of Cold Spring Harbor Molecular Case Studies on Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum centers on thresholds for the definition of mosaic disorders and how to r...
Heather C Mefford
Heather C Mefford
Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Gene...
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA [0.03%]
PIK3CA的体细胞病原变异导致了脑面血管瘤病综合征
Sarah E Sheppard,Victoria R Sanders,Abhay Srinivasan et al.
Sarah E Sheppard et al.
Disorganized morphogenesis of arteries, veins, capillaries, and lymphatic vessels results in vascular malformations. Most individuals with isolated vascular malformations have postzygotic (mosaic), activating pathogenic variants in a handfu...
The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant [0.03%]
生殖细胞RIT1和嵌合PIK3CA变异的混合表型
Siren Berland,Jørgen Jareld,Nicholas Hickson et al.
Siren Berland et al.
We report a patient with a germline RIT1 and a mosaic PIK3CA variant. The diagnosis of the RASopathy was confirmed by targeted sequencing following the identification of transient cardiomyopathy in a patient with PIK3CA-related overgrowth s...
Clinicopathologic and molecular analysis of a BCOR-CCNB3 undifferentiated sarcoma of the kidney reveals significant epigenetic alterations [0.03%]
肾BCOR-CCNB3未分化肉瘤的临床病理和分子分析揭示了显著的表观遗传改变
Tamara J Hagoel,Eduardo Cortes Gomez,Ajay Gupta et al.
Tamara J Hagoel et al.
Undifferentiated soft tissue sarcomas (UDSTSs) are a group of mesenchymal tumors that remain a diagnostic challenge because of their morphologic heterogeneity and unclear histologic origin (Peters et al., Mod Pathol28: 575 [2015]). In this ...
Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patients [0.03%]
Hi-C检测儿科白血病患者外周血中的基因组结构变异
Claire Mallard,Michael J Johnston,Anna Bobyn et al.
Claire Mallard et al.
B-cell acute lymphoblastic leukemia (B-ALL) is often driven by chromosome translocations that result in recurrent and well-studied gene fusions. Currently, fluorescent in situ hybridization probes are used to detect candidate translocations...
Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry [0.03%]
叙利亚后裔隐窝绒毛内包疾病的新型MYO5B突变
Kamal Hassan,Amal Robay,Aljazi Al-Maraghi et al.
Kamal Hassan et al.
Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first y...
Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21 [0.03%]
嵌合体21三体症的首发表现可为一过性骨髓增生性疾病
Nicole Baca,Pedro A Sanchez-Lara,Rhona Schreck et al.
Nicole Baca et al.
Trisomy 21 is a common congenital disorder with well-documented clinical manifestations, including an increased risk for the transient myeloproliferative disorder as a neonate and leukemia in childhood and adolescence. Transient myeloprolif...
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome [0.03%]
基因组测序鉴定出一个同时患有III型多瘤病毒相关白质脑病和费因戈尔德综合症的个体具有三种分子诊断，包括COL2A1基因的嵌合变异。
Kayla J Muirhead,Amanda R Clause,Zinayida Schlachetzki et al.
Kayla J Muirhead et al.
Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, inclu...