Case report: olaparib use in metastatic lung adenocarcinoma with BRCA2 pathogenic variant [0.03%]
病例报告：奥拉帕利用于治疗带有BRCA2致病突变的转移性肺腺癌
Jonathan Soon Jian Hao,Chan Sock Hoai,Daniel Tan Shao Weng et al.
Jonathan Soon Jian Hao et al.
Poly (ADP-ribose) polymerase (PARP) inhibitors have been approved in malignancies associated with germline BRCA1 or BRCA2 pathogenic variants, such as breast, ovarian, prostate, and pancreatic cancer. In malignancies not associated with ger...
Rapid genome sequencing identifies novel variants in complement factor I [0.03%]
快速基因组测序识别补体因子I中的新变异
Katherine M Rodriguez,Jordan Vaught,Michelle Dilley et al.
Katherine M Rodriguez et al.
Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infan...
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III [0.03%]
通过对短肋胸廓发育不良III型患者进行全外显子测序发现DYNC2H1基因新型深层内含子变异表征一例致命病例
Muqsit Buchh,Patrick J Gillespie,Kayla Treat et al.
Muqsit Buchh et al.
Biallelic pathogenic variants in DYNC2H1 are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM #613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we rev...
Mehak Bhatia,Gianpiero L Cavalleri,Máire White et al.
Mehak Bhatia et al.
Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral diffi...
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome [0.03%]
快速基因组测序鉴定新生儿先天性肌无力综合征的新型SNAP25变异体
Hayley M Reynolds,Ting Wen,Andrew Farrell et al.
Hayley M Reynolds et al.
Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype i...
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration [0.03%]
PDE6B中的一个新型大多重基因删除和移码indel的鉴定，作为早期发病的隐性棒锥变性的潜在原因
Riccardo Sangermano,Pooja Biswas,Lori S Sullivan et al.
Riccardo Sangermano et al.
A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative v...
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome [0.03%]
DAND5功能丧失型突变导致异位症
Mythily Ganapathi,Christie M Buchovecky,Fernando Cristo et al.
Mythily Ganapathi et al.
The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in DAND5, a nodal inhibitor, which functions in early de...
Comprehensive molecular characterization of a rare case of Philadelphia chromosome-positive acute myeloid leukemia [0.03%]
一例罕见的费城染色体阳性急性髓系白血病的全面分子特征分析
Mara W Rosenberg,Samantha L Savage,Christopher A Eide et al.
Mara W Rosenberg et al.
The Philadelphia chromosome (Ph) resulting from the t(9;22) translocation generates the oncogenic BCR::ABL1 fusion protein that is most commonly associated with chronic myeloid leukemia (CML) and Ph-positive (Ph+) acute lymphoblastic leukem...
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome [0.03%]
一个新的大的FBN1内含子缺失导致新生儿马凡综合征
Sümeyye Elgaz,Boris Wittekindt,Anoosh Esmaeili et al.
Sümeyye Elgaz et al.
Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations ...
Discovery and functional characterization of the oncogenicity and targetability of a novel NOTCH1-ROS1 gene fusion in pediatric angiosarcoma [0.03%]
儿童血管肉瘤中NOTCH1-ROS1基因融合的致癌性和靶向性的发现和功能表征
Payal Jain,Sudarshan Iyer,Joshua Straka et al.
Payal Jain et al.
Angiosarcomas are rare, malignant soft tissue tumors in children that arise in a wide range of anatomical locations and have limited targeted therapies available. Here, we report a rare case of a pediatric angiosarcoma (pAS) with Li-Fraumen...