Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy [0.03%]
ATP6V1B2相关的听力损失和甲营养不良患者人工耳蜗植入术后的听力结果分析
Sarah Chamieh,Pauline Marzin,Sophie Achard et al.
Sarah Chamieh et al.
The gold standard recommendation for congenital sensorineural hearing loss (SNHL) care is cochlear implantation (CI). Adjusting for confounding factors such as developmental comorbidities is crucial when assessing expected outcomes of the p...
A Novel de novo CACNA1G Variant p.(Arg1553Gln) Associated with Neurodevelopmental Delay and Cerebellar Hypoplasia: Expanding the Phenotypic Spectrum [0.03%]
一种新的CACNA1G变异体p.(Arg1553Gln)，与神经发育迟缓和小脑发育不全相关：扩展了表型范围
Ayberk Selek,Furkan Orpay,Bülent Unay
Ayberk Selek
CACNA1G encodes the Cav3.1 T-type calcium channel, a key regulator of neuronal excitability and thalamocortical rhythmicity. Pathogenic variants have been associated with neurodevelopmental disorders, frequently accompanied by epilepsy and ...
Development of a predictive matrix for pre-test genetic counselling in inherited retinal diseases based on data from 1001 patients enrolled in the IRD-PT registry [0.03%]
基于IRD-PT登记的1001例患者数据制定遗传性视网膜疾病基因检测前遗传咨询预测矩阵
Inês Figueiredo,Nuno Cruz,Beatriz Gaspar et al.
Inês Figueiredo et al.
Genetic testing plays a pivotal role in the management of Inherited Retinal Diseases (IRDs), yet a significant proportion of patients remain without a molecular diagnosis. This study aimed to develop a predictive matrix to estimate the like...
Genotype before phenotype? Reversing the diagnostic odyssey in genomic medicine [0.03%]
基因检测先于表型吗？ genomive 医学中逆转诊断之旅
Alain Chebly,Said El Shamieh
Alain Chebly
For decades, the diagnosis of rare genetic disorders has relied on a phenotype-driven approach, often resulting in a prolonged "diagnostic odyssey." The widespread use of whole-exome and whole-genome sequencing has transformed this paradigm...
A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris Syndrome [0.03%]
多组学方法表征Coffin-Siris综合征的ARID1A深度内含子删除变异
Sarah Schuhmann,Elisabeth Bosch,Andreas Fink et al.
Sarah Schuhmann et al.
Pathogenic variants in BAF complex genes are linked to neurodevelopmental disorders, termed BAFopathies. Coffin-Siris syndrome (CSS) is the most well-defined BAFopathy caused by variants in several BAF subunit genes. ARID1A variants are res...
Karine Aouchiche,Paul Guerry,Alexandre Fabre
Karine Aouchiche
Medical understanding of rare diseases is hindered by incomplete initial descriptions. A related but often overlooked question is how many patients are required to define a phenotype. We evaluated the phenome coverage of 10 recently publish...
VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations [0.03%]
VPS35L相关的Ritscher-Schinzel综合征：扩展基因型-表型相关性
Ilaria Carelli,Federico Rondot,Maria Luca et al.
Ilaria Carelli et al.
Introduction: Ritscher-Schinzel syndrome (RTSC; 3C syndrome) is a rare syndromic neurodevelopmental disorder resulting from defects in endosomal recycling. Biallelic variants in VPS35L, encoding a core component of the Re...
Child-onset Hepatic Glycogenosis and Steatosis in PTEN-related Disorder [0.03%]
与PTEN相关的疾病的儿童期肝糖原累积病和肝脂变
Boonyanurak Sihaklang,Hathaipat Vaseenon,Chatmanee Lertudomphonwanit et al.
Boonyanurak Sihaklang et al.
Bannayan-Riley-Ruvalcaba syndrome is a rare PTEN-related disorder characterized by macrocephaly, intellectual disability, autism, hamartomatous intestinal polyps, and pigmentation of the glans penis. We describe a novel pathogenic variant o...
MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a family [0.03%]
MMP13相关 metaphysis 骨发育不全型1与佝偻病样表现的一家系
Sofia Thunström,Pavel Antonsson,Simon Stenberg et al.
Sofia Thunström et al.
Background: Metaphyseal anadysplasia 1, which includes Spondyloepimetaphyseal dysplasia Missouri type, is a rare autosomal dominant skeletal dysplasia characterized by short stature, mild limb deformities, and transient m...
COL12A1-related myopathic Ehlers-Danlos syndrome with Chiari I malformation: A clinical report [0.03%]
ⅩⅡ型胶原COL12A1基因突变导致的肌病型埃勒斯-当洛斯综合征并发小脑扁桃体下疝畸形：一例临床报道
Jun Shinmi,Hotake Takizawa,Yoshihiko Saito et al.
Jun Shinmi et al.
Myopathic Ehlers-Danlos syndrome (mEDS) is a rare connective tissue disorder caused by pathogenic variants in COL12A1. It is characterized by congenital muscle hypotonia, muscle atrophy, and age-related improvement. We report the first deta...