Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants [0.03%]
迟发性维生素B6依赖性癫痫由PLPBP复合杂合变异引起
Sadao Nakamura,Yasutsugu Chinen,Hirotaka Minema et al.
Sadao Nakamura et al.
Evidence has shown that pathogenic variants of the PLPBP gene can cause vitamin B6-dependent epilepsy, a condition characterized by neonatal-onset seizures that respond to vitamin B6 supplementation. In this paper, we report a case of vitam...
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape [0.03%]
ARID1A基因变异与胎儿脑积水：首次证据表明mRNA降解逃逸
Yuya Tanaka,Mamiko Yamada,Fuyuki Miya et al.
Yuya Tanaka et al.
Germline variants in ARID1A have been associated with the so-called BAFopathies, including Coffin-Siris syndrome, which is characterized by hypertrichosis, short fifth finger, thin upper lip, and thick lower lip, is associated with a unique...
Concurrent inheritance of achromatopsia and MMAT syndrome in a pedigree: Genetic and clinical insights [0.03%]
红绿色盲和MMAT综合征并发遗传家系的基因及临床研究
Maryam Aghasipour,Sina Zoghi,Afrooz Feili et al.
Maryam Aghasipour et al.
Background: Achromatopsia is a rare type of retinal dystrophy presenting with decreased visual acuity, pendular nystagmus, photophobia, impaired color discrimination, and central scotoma. In this study, we investigated ac...
COL12A1 gene mutation is associated with habitual patellar dislocation: a case report and literature review [0.03%]
Ⅰ型胶原α1链基因突变与习惯性髌骨脱位的关系：1例报告及文献复习
Qinying Feng,Chao Feng,Xiaoyu Song et al.
Qinying Feng et al.
Variants within COL12A1 have been associated with the occurrence and progression of a number of musculoskeletal disorders. Here, we report a case of patellar dislocation and limited mobility in a 13-year-old patient and genetic determinatio...
Innovative treatments of pediatric spinal muscular atrophy: The decision-making process in France [0.03%]
法国儿童脊髓性肌萎缩症的创新疗法决策过程
Maelle Biotteau,Juliette Ropars,Brigitte Chabrol et al.
Maelle Biotteau et al.
Spinal muscular atrophy (SMA) is a devastating early-onset genetic disease characterized by motor neuron degeneration. For several years, an early access program has facilitated the use of three innovative therapies in France. To better def...
Diagnostic yield of whole exome sequencing in a cohort of 825 patients [0.03%]
全外显子组测序在825名患者中的诊断价值分析
Peter Førster Andersen,Jakob Ek,Helena Gásdal Karstensen et al.
Peter Førster Andersen et al.
Genetic testing plays a significant role in rare disease diagnostics. The most widespread technology for genetic testing of patients is next generation sequencing or second-generation sequencing, including whole exome sequencing (WES). Our ...
Isabell Schumann,Rami Abou Jamra,Robin-Tobias Jauss et al.
Isabell Schumann et al.
Defective neuronal migration causes lissencephaly (LIS), a neurodevelopmental disorder (NDD) with a smooth cerebral surface and abnormal cortical thickness. Variants in CEP85L are linked to posterior predominant LIS, but the phenotype and g...
Praveen Prathapan
Praveen Prathapan
The genetic code is the set of rules by which nucleotide sequences correspond to amino acids. These rules are uniquely enforced by aminoacyl-tRNA synthetases (aaRSs): enzymes that ligate tRNA molecules to amino acids. Here it is argued this...
Feng Zhu,Yu Zhang,Kaixuan Wang et al.
Feng Zhu et al.
Chitayat syndrome (CHYTS) is an autosomal dominant disorder caused by variants in the ETS2 repressor factor (ERF) gene, located on 19q13.2. This gene encodes the ERF protein. The syndrome is extremely rare, with only 13 patients reported to...
A fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6ST [0.03%]
IL6ST截短变异所致的新生儿Stüve-Wiedemann综合征病例报告
Dominique Braun,Sofia Amylidi-Mohr,Olaf Ahrens et al.
Dominique Braun et al.
Stüve-Wiedemann syndrome is a rare skeletal dysplasia characterized by severe shortening and bowing of the long bones and by immunological and autonomous dysfunction, usually resulting in early death. Bi-allelic loss-of-function variants i...