Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis [0.03%]
Dominique L Assing,Danielle E Jolly,Sarah Gluschitz et al.
Dominique L Assing et al.
Introduction: Craniofrontonasal syndrome displays an unusual X-linked dominant inheritance pattern due to pathogenic variants in EFNB1, which encodes a membrane-bound ligand for the ephrin receptor. Females exhibit a more...
A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing [0.03%]
Fanjuan Kong,Zhaochu Yin,Haiyan Zhou et al.
Fanjuan Kong et al.
Background: This study aimed to identify candidate genes for recurrent pregnancy loss (RPL). Methods: Trio-whole exome sequencing (WES)...
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review [0.03%]
Elia Marco Paolo Minale,Stefania Martone,Chiara Criscuolo et al.
Elia Marco Paolo Minale et al.
Background: The complex pathogenetic mechanisms of rare genetic diseases make the diagnostic process highly challenging. Advances in molecular genomic techniques, such as exome sequencing, have improved the identification...
Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases [0.03%]
Yan-Fang Li,Song-Hui Zhang,Li Zhen et al.
Yan-Fang Li et al.
Objective: Autosomal recessive microcephaly type 2 (MCPH2), caused by biallelic WDR62 variants, is a rare neurodevelopmental disorder typically described postnatally. We aimed to delineate its prenatal phenotype via data ...
Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3 [0.03%]
Mei Ye,Xiao Ping Qiu,Shengnan Zhang et al.
Mei Ye et al.
Background: Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder that results in the impaired ability to perform activities of daily living (ADLs). However, there is a lack of objective neuroim...
Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System [0.03%]
在南非公共医疗体系中实施遗传性疾病基因检测试剂盒以加速精准医学的发展
Nadia Carstens,Maria Mudau,Fahmida Essop et al.
Nadia Carstens et al.
Background: While whole genome and exome sequencing is already being implemented in clinics across the globe, there is still very little uptake of these technologies in African healthcare facilities. Significant hurdles r...
Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia [0.03%]
COG5基因新型复合杂合变异导致胎儿水肿和骨骼发育不良
Qi Yang,Wei He,Qiang Zhang et al.
Qi Yang et al.
Introduction: Congenital Disorders of Glycosylation (CDG) are a complex and highly heterogeneous group of rare metabolic disorders characterized by defects in enzymes and transporter proteins crucial for glycosylation pat...
Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings [0.03%]
宫内基因组诊断的诊断率、综合征谱系和意外发现
Kayleigh Avello,Shawn Gessay,Megan Nelson et al.
Kayleigh Avello et al.
Objective: Exome sequencing (ES) has become increasingly more prevalent across maternal fetal medicine spaces when anomalies are visualized on ultrasound. As such, Prevention Genetics implemented secondary finding categor...
Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes [0.03%]
KMT2C的新变异进一步支持了一种与克利夫斯塔和卡布基综合征不同的神经发育障碍
Lucie Sedláčková,Dana Šafka Brožková,Markéta Havlovicová et al.
Lucie Sedláčková et al.
Background: Heterozygous loss-of-function variants in the KMT2C gene were only recently recognized as a cause of neurodevelopmental disorder distinct from Kleefstra and Kabuki 1 syndromes. KMT2C-related neurodevelopmental...
Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family [0.03%]
CLIC5基因的排除及NEFM为常染色体隐性遗传纯小脑共济失调相关新基因候选基因的鉴定：一例近亲婚配家系报告
Paolo Enrico Maltese,Gabriele Bonetti,Elena Manara et al.
Paolo Enrico Maltese et al.
Background: Pure cerebellar ataxia is a neurological disorder characterised by isolated cerebellar dysfunction, arising from either developmental anomalies or progressive degenerative processes. Precise genetic diagnosis ...