Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood [0.03%]
EXOC3L2双等位基因突变导致一种影响大脑、肾脏和血液的新型综合症
Adel Shalata,Supanun Lauhasurayotin,Zvi Leibovitz et al.
Adel Shalata et al.
Background: Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively c...
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures [0.03%]
ASCC1新突变导致宫内期肌无力、并指（趾）畸形和先天性骨折综合征
Johann Böhm,Edoardo Malfatti,Emily Oates et al.
Johann Böhm et al.
Background: The activating signal cointegrator 1 (ASC-1) complex acts as a transcriptional coactivator for a variety of transcription factors and consists of four subunits: ASCC1, ASCC2, ASCC3 and TRIP4. A single homozygo...
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy [0.03%]
神经分化因子2(NEUROD2)的新发致病突变会引起一种早发型婴儿癫痫性脑病
Annalisa G Sega,Emily K Mis,Kristin Lindstrom et al.
Annalisa G Sega et al.
Background: Early infantile epileptic encephalopathies are severe disorders consisting of early-onset refractory seizures accompanied often by significant developmental delay. The increasing availability of next-generatio...
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome [0.03%]
特定的POLR3A双等位基因变异组合可导致Wiedemann-Rautenstrauch综合征
Stefano Paolacci,Yun Li,Emanuele Agolini et al.
Stefano Paolacci et al.
Background: Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty t...
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [0.03%]
包含PTEN的10q23.31微重复导致mTOR信号活性降低并与其常染色体显性遗传原发性小头畸形相关
Danyllo Oliveira,Gabriela Ferraz Leal,Andréa L Sertié et al.
Danyllo Oliveira et al.
Background: Hereditary primary microcephaly (MCPH) is mainly characterised by decreased occipitofrontal circumference and variable degree of intellectual disability. MCPH with a dominant pattern of inheritance is a rare c...
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations [0.03%]
新免疫疗法方案治疗带有CDKN2A胚系突变的转移性黑色素瘤患者的有效性研究
Hildur Helgadottir,Paola Ghiorzo,Remco van Doorn et al.
Hildur Helgadottir et al.
Background: Inherited CDKN2A mutation is a strong risk factor for cutaneous melanoma. Moreover, carriers have been found to have poor melanoma-specific survival. In this study, responses to novel immunotherapy agents in C...
Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature [0.03%]
下一代测序在儿童癌症患者中检测出的临床相关生殖系变异的研究：文献综述
Dianne E Sylvester,Yuyan Chen,Robyn V Jamieson et al.
Dianne E Sylvester et al.
Genetic predisposition is an important underlying cause of childhood cancer, although the proportion of patients with childhood cancer carrying predisposing pathogenic germline variants is uncertain. This review considers the pathogenic or ...
Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: results from the prospective TEDDY study [0.03%]
遗传因素影响自身免疫发展为1型糖尿病：TEDDY前瞻性研究结果
Andreas Beyerlein,Ezio Bonifacio,Kendra Vehik et al.
Andreas Beyerlein et al.
Background: Progression time from islet autoimmunity to clinical type 1 diabetes is highly variable and the extent that genetic factors contribute is unknown. ...
Haemophagocytic lymphohistiocytosis complicating pembrolizumab treatment for metastatic breast cancer in a patient with the PRF1A91V gene polymorphism [0.03%]
PRF1A91V基因多态性患者接受派姆单抗治疗转移性乳腺癌并发噬血细胞综合征
Hanny Al-Samkari,Gregory D Snyder,Sarah Nikiforow et al.
Hanny Al-Samkari et al.
Background: Immune checkpoint inhibitor therapy is a modern breakthrough in medical oncology, but it can precipitate inflammatory and autoimmune adverse effects. Among the most serious of these toxicities is haemophagocyt...