Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures [0.03%]
在一名患有发育迟缓和癫痫的男性患者中鉴定出一种PGM2L1同型变异
Mengmeng Niu,Dong Wang,Shanshan Jia
Mengmeng Niu
Background: PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical symptoms. This study aims to report the clinical features and genetic findings in a male patient w...
Single Nucleotide Polymorphism Microarray Analysis Unveils Copy-Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B-Cell Precursor Acute Lymphoblastic Leukemia [0.03%]
单核苷酸多态性微阵列分析揭示了马来西亚儿童B细胞前体急性淋巴细胞白血病中的拷贝数异常和遗传异质性
Nor Soleha Mohd Dali,Nursaedah Abdullah Aziz,Muhamad Farid Zulkifle et al.
Nor Soleha Mohd Dali et al.
Introduction: B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a prevalent pediatric hematologic malignancy characterized by diverse chromosomal aberrations that significantly influence its prognosis. This study...
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing [0.03%]
摩洛哥实现肌营养不良症分层基因检测策略：从靶向测定到外显子组测序
Yasmina Rahmuni,Ilham Ratbi,Jaber Lyahyai et al.
Yasmina Rahmuni et al.
Introduction: Muscular dystrophies (MDs) are a heterogeneous group of inherited neuromuscular disorders. In Morocco, where consanguinity is common, recurrent variants have been reported; however, the overall molecular lan...
Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation [0.03%]
KCNJ10基因的新突变与SeSAME综合征相关：罕见疾病可能具有常见突变
Shayan Shakeri,Sanaz Mohammadi,Forough Sadeghipour et al.
Shayan Shakeri et al.
Background: Mutations in the KCNJ10 gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural deafness, ataxia, intellectual impairment and electrolyte imbalances. KCNJ10 encodes...
Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children [0.03%]
中国儿童遗传性球形红细胞增多症的临床特点和基因型研究
Yuzhuopu Li,Yang Wang,Tao Liu et al.
Yuzhuopu Li et al.
Background and aim: Hereditary spherocytosis (HS) is a common disease in hereditary hemolytic anemia. Advancements in sequencing technology have enabled the identification of a growing number of mutation sites associated ...
Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family [0.03%]
多世代结节性硬化症(TSC)家系的严重肾脏表现型
Elena Tuller,Joshua A Samuels,Hope Northrup et al.
Elena Tuller et al.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in the brain, kidney, and heart, along with other complex clinical manifestations, includ...
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan [0.03%]
台湾酸性鞘磷脂酶缺乏症患者的致病基因变异及Olipudase alfa治疗状况
Hsu-Heng Lin,Hui-An Chen,Shyh-Jer Lin et al.
Hsu-Heng Lin et al.
Background: Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal disorder with diverse clinical presentations and often delayed diagnosis. This study investigates the clinical features, genetic variants, and treatm...
Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage [0.03%]
在两个有近婚亲缘关系的伊朗家系中鉴定出LINS1的新错义纯合子变异
Elham Alimoradi,Parham Nejati,Arash Salmaninejad et al.
Elham Alimoradi et al.
Background: LINS1, the human homolog of the Drosophila segment polarity gene, encodes a key regulator of the Wingless/Wnt signaling pathway. While numerous genes have been implicated in intellectual disability (ID), only ...
Rhianna M Urban,Nisha Kanwar,Megan A Holdren et al.
Rhianna M Urban et al.
Background: Li Fraumeni syndrome (LFS) is a hereditary multi-cancer syndrome caused by alterations in TP53 (MIM# 151623). Next generation sequencing (NGS) allows for the detection of TP53 variants at lower variant allele ...
A Novel A-Kinase-Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series [0.03%]
A-KINASE-ANCHORING蛋白9的新变异体与早发性冠状动脉疾病：病例系列报告
Yuemiao Jiao,Minxian Wang,Guifen Qiang et al.
Yuemiao Jiao et al.
Background: Familial premature coronary artery disease (CAD) is often associated with genetic variants. This study investigated potential causal variants in a Chinese pedigree with premature CAD. ...