Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3 [0.03%]
日本1例神经脑脂褐症III型的持续性淋巴细胞减少症病例报告
Kenta Kajiwara,Qiaowei Liang,Yuri Uchiyama et al.
Kenta Kajiwara et al.
Background: Neuronal ceroid lipofuscinosis (NCL) is a heterogeneous group of lysosomal disorders characterized by progressive psychomotor regression, visual impairment, and intractable seizures. Genetically, NCL type 3 (C...
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism [0.03%]
FIG4基因变异的表型谱系：与夏科-玛丽- tooth 4J型和帕金森病相关的变异
Barbora Lauerova,Radim Mazanec,Katja Eggerman et al.
Barbora Lauerova et al.
Biallelic variants in the FIG4 gene cause Charcot-Marie-Tooth type 4J (CMT4J) and Yunis-Varon syndrome. There is increasing evidence of phenotypic overlap between CMT4J and Yunis-Varon syndrome, which presents with peripheral neuropathy and...
Chromosome Heteromorphisms: Critical Literature Review Finds No Convincing Evidence of Harm [0.03%]
染色体异态：关键文献回顾未发现有害证据
Kamlesh Madan
Kamlesh Madan
There are conflicting reports on chromosome heteromorphisms. A large number of papers claim that these variants are found more frequently among infertile couples, especially with recurrent pregnancy loss and are even associated with congeni...
Jie Zhang,Yafei Deng,Yaxin Huang et al.
Jie Zhang et al.
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease characterized by significant genetic heterogeneity. While the T-box transcription factor 1 (TBX1) gene is known to cause congenital ...
Linda van der Tol,Miranda de Jong,Mariëlle Alders et al.
Linda van der Tol et al.
With new and increasingly sensitive techniques for genetic testing, genes that are newly related to a phenotype or disease are still identified, warranting for adequate phenotyping. Recently, 11 variants in the ZFX gene were reported to cau...
Re-evaluating Acceptable Risk of Death from Gene Therapy: A Threshold Study Among Individuals with Duchenne Muscular Dystrophy and Their Caregivers in the US and UK [0.03%]
关于基因疗法死亡风险的再思考——对美国和英国杜氏肌营养不良症患者及照料者的一项阈值研究
Holly Peay,Ryan Fischer,Megan McNiff et al.
Holly Peay et al.
Patient and caregiver treatment preferences should be incorporated into the drug development process. We updated a 2018 survey to reflect current knowledge about gene therapy for Duchenne muscular dystrophy (DMD) and obtained new data in th...
Clinical and Molecular Findings of KMT2D-Related Kabuki Syndrome: A Series of 13 Patients With 3 Novel Variants [0.03%]
KMT2D相关卡布奇诺综合症的临床和分子特征：13例患者（含3种新突变）系列研究
Ayşe Burcu Doğan Arı,Ayberk Türkyılmaz,Büşranur Çavdarlı et al.
Ayşe Burcu Doğan Arı et al.
Kabuki syndrome (KS, #147920) is a rare genetic disorder characterized by postnatal growth deficiency, hypotonia, typical facial features, microcephaly, persistence of fetal fingertip pads, and intellectual disability. It is caused by varia...
Corrigendum to "A novel RORA genetic variant associated with early-onset obesity and insomnia" [0.03%]
“与早发性肥胖和失眠相关的新款RORA基因变异体”的勘误表
Alexie Ouellette,Eric P Allain,Abdullah Almaghraby et al.
Alexie Ouellette et al.
Published Erratum
European journal of medical genetics. 2025 Oct 6:105031. DOI:10.1016/j.ejmg.2025.105031 2025
Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis [0.03%]
罕见病诊断中基因组数据周期性重新分析的重测序与存档数据方法成本比较：英国一项试点研究分析
Ravi Prabhakar More,Dulika Sumathipala,Helen Dolling et al.
Ravi Prabhakar More et al.
Periodic reanalysis of genome sequence data in rare diseases to improve diagnostic rates is recommended every 18-months. However, cost can be a major consideration. We compared the cost of two reanalysis methods: (A) resequencing of stored ...
Fanny Ferroul,Sarah Snanoudj,Gaëlle Leterme et al.
Fanny Ferroul et al.
Feingold syndrome type 1 (FS1) (OMIM 164280) is an autosomal dominant condition due to heterozygous loss of function variants in MYCN gene or to 2p24 deletion encompassing MYCN gene. The core features of FS1 are digital anomalies, microceph...