Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing [0.03%]
采用长读测序对平衡的复杂染色体重排进行断点分析以研究基因型和表型之间的关系
Frenny Sheth,Jhanvi Shah,Mamta Muranjan et al.
Frenny Sheth et al.
Molecular characterization of balanced complex chromosomal rearrangements (CCR) aids in understanding the pathophysiological mechanism and corresponding genotype-phenotype correlations. The present case describes a male child with intellect...
Expanding the Phenotype of Biallelic PIGG Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability [0.03%]
PIGG双等位基因变异体的表型扩展：周围神经高兴奋性的运动神经病
Pedro Henrique Marte de Arruda Sampaio,Cristiane Araujo Martins Moreno,Filipe di Pace et al.
Pedro Henrique Marte de Arruda Sampaio et al.
Pathogenic variants in PIGG (phosphatidylinositol glycan anchor biosynthesis, class G) disrupt glycosylphosphatidylinositol (GPI) anchoring of cell-surface proteins. Recently, biallelic PIGG variants have been linked to motor neuropathy wit...
KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling [0.03%]
KRT6A突变导致先天性厚甲症的发病机制及生物学功能研究
Yaqiong Ren,Wensi Niu,Yue Cao et al.
Yaqiong Ren et al.
Variants in the keratin 6A (KRT6A) gene are a major cause of pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by nail hypertrophy and other ectodermal abnormalities. This study aimed to identify the causative mu...
Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency [0.03%]
LIG3新突变导致致命的免疫缺陷表型
Gonench Kilich,Tanaya Jadhav,Kelly Maurer et al.
Gonench Kilich et al.
Pathogenic, biallelic variants in LIG3 are known to cause Mitochondrial DNA Depletion syndrome 20 with variable expression and severity. We describe a child with progressive encephalopathy, cataracts, movement disorder, endocrine dysfunctio...
Jianhong Hu,Moez Dawood,Heer Hemant Mehta et al.
Jianhong Hu et al.
Xia-Gibbs Syndrome (XGS; MIM: 615829) is a rare neurodevelopment disorder (NDD) caused by de novo pathogenic variants in the single coding exon of the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene. In this study, we investigate a rare...
Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis [0.03%]
IQSEC1双等位基因新变异与小头畸形、智力障碍和脑胼胝体发育不全综合征关系的研究
A A Kashevarova,L I Minaycheva,E A Fonova et al.
A A Kashevarova et al.
To date, only two families with variants in the IQSEC1 gene associated with intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) have been described. Here, we report an 8-year-old boy with short stat...
Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect [0.03%]
创inine转运缺陷男性的面部畸形特征刻画
John Perreault,F Dennison Porter,Małgorzata J M Nowaczyk
John Perreault
ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant [0.03%]
ATP6V0A2相关皮肤松弛症：在土耳其东南部发现一种带有始祖效应的外显子16缺失以及一个新的无义变异
Zeynep Esener,Murat Öztürk,Esra Habiloğlu et al.
Zeynep Esener et al.
ATP6V0A2-related cutis laxa is a rare autosomal recessive disorder characterized by connective tissue abnormalities, developmental delay, and neurological features. While multiple sequence variants have been reported, exon-level deletions a...
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management [0.03%]
库奇内综合征的吞咽和交流：临床特征和管理
Abigail M Spoden,Katlyn E McGrattan,Peter B Kang
Abigail M Spoden
Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communica...
Genetic and Clinical Characteristics of Chromosome 15q11-q13 Duplication Syndrome in Chinese Children [0.03%]
染色体15q11-q13重复综合征的遗传及临床特征（中国儿童）
Ruo-Yan Liu,Yu-Jia Wu,Chao-Chun Zou
Ruo-Yan Liu
To enhance the diagnosis, management, and monitoring of Chinese children with chromosome 15q11-q13 duplication syndrome (dup15q) by analyzing their genetic and clinical characteristics. In this study, one Chinese prenatal case and 21 postna...