MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review [0.03%]
由新型复合杂合突变引起的MYH2相关性肌病的病例报告和文献回顾
Yulai Kang,Tong Yang,Xue Chen et al.
Yulai Kang et al.
MYH2-associated myopathy is a group of congenital heterogeneous diseases. Case reports with MYH2-associated myopathy due to compound heterozygous mutations are rare. We report a 63-year-old Asian female who presented with bilateral ptosis a...
Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency [0.03%]
PRDM9杂合截断突变导致的原发性卵巢功能不全病例研究报告
Abdelkader Heddar,Juliette Fievez,Radoslava Saraeva et al.
Abdelkader Heddar et al.
Yukina Hayashi,Keisuke Hamada,Kavitha Rethanavelu et al.
Yukina Hayashi et al.
Pontocerebellar hypoplasia type 2 (PCH2) is an autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in tRNA splicing endonuclease (TSEN) subunit genes. Variants in TSEN54 are most common, with very few case...
Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing [0.03%]
短读长测序无法解析的肌肉疾病的特异性遗传诊断策略
Yoshihiko Saito,Ichizo Nishino
Yoshihiko Saito
In recent years, whole-exome and whole-genome sequencing have been increasingly applied for the genetic diagnosis of muscle diseases. However, standard short-read sequencing often fails to detect pathogenic variants in some inherited muscle...
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant [0.03%]
与UBQLN2错义变异有关的日本遗传性痉挛性截瘫
Kazuki Watanabe,Tatsuya Ema,Kenji Shimizu et al.
Kazuki Watanabe et al.
UBQLN2 is located on Xp11.21 and encodes the ubiquilin 2 protein involved in protein homeostasis. Heterozygous or hemizygous missense variants in UBQLN2 cause amyotrophic lateral sclerosis (ALS). In addition, rare cases of primary lateral s...
Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder [0.03%]
前瞻性研究：对137名印度自闭症谱系障碍儿童进行三联外显子组测序的阳性率及临床影响分析
Shruti Bajaj,Shreya Gandhi,Thenral S Geetha et al.
Shruti Bajaj et al.
We aimed to study the diagnostic yield and clinical impact of trio exome sequencing (tES) in children with autism spectrum disorder (ASD). Participants (n = 137) between 2 and 18 years with syndromic and non-syndromic ASD underwent tES, aft...
Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents [0.03%]
印度青少年血脂遗传学的研究：常见和罕见的血脂性状遗传变异识别
Janaki M Nair,Analabha Basu,Nikhil Tandon et al.
Janaki M Nair et al.
Elucidating the genetic basis of lipid metabolism in children is essential for early intervention in dyslipidemia and cardiovascular diseases. We performed a two-staged genome-wide association study (GWAS; N = 5412) and an independent exome...
Polygenic risk score as a tool to predict gestational weight gain and gestational diabetes among pregnant women in Taiwan [0.03%]
多基因风险评分作为预测台湾孕妇妊娠体重增长和妊娠糖尿病的工具
Wen-Ling Liao,Hao-I Hsieh,Ting-Yuan Liu et al.
Wen-Ling Liao et al.
Gestational diabetes mellitus (GDM) is a prevalent pregnancy complication influenced by pre-pregnancy overweight or obese and high gestational weight gain (GWG). This study investigated the impact of body mass index (BMI)-related genetic va...
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci? [0.03%]
印度小脑萎缩患者中不稳定的FGF14 GAA重复序列扩增：更广泛的表型及修饰位点的作用？
Pannaga Prasad G,Aleksandra Makarova,Kandasamy Kathirvel et al.
Pannaga Prasad G et al.
Spinocerebellar ataxia (SCA27B), due to an intronic GAA repeat expansion in the FGF14 gene, has been described recently. We screened DNA samples for expanded FGF14 GAA repeats in individuals with movement disorder (N = 526) in our laborator...
Defective O-mannosyl glycan synthesis in dystroglycanopathies: pathogenesis and therapeutic frontiers [0.03%]
dystroglycanopathy糖链合成缺陷：发病机制与治疗进展
Hiroshi Manya,Motoi Kanagawa
Hiroshi Manya