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Syndromic ciliopathy: a taiwanese single-center study
BackgroundSyndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual...
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Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate...
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Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result...
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray...
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Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
AbstractAmong neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly...
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Skeletal ciliopathies are a heterogenous group of disorders with overlap** clinical and radiographic features including bone dysplasia and internal...
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Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa
INPP5E encodes inositol polyphosphate-5-phosphatase E, an enzyme involved in regulating the phosphatidylinositol (PIP) makeup of the primary cilium...
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When Cilia Go Bad: The Complex Genetics of Ciliopathies
Disruption of ciliary and basal body function has been associated with a growing number of human genetic disorders, collectively termed ciliopathies....
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Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report
BackgroundRecurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic...
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Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort...
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Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome
Ellis–van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral...
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Primary cilia as dynamic and diverse signalling hubs in development and disease
Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling...
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The exocyst complex in neurological disorders
Exocytosis is the process by which secretory vesicles fuse with the plasma membrane to deliver materials to the cell surface or to release cargoes to...
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Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid...
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Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
This study describes genomic findings among individuals with both orofacial clefts (OC) and microphthalmia/anophthalmia/coloboma (MAC) recorded in...
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Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
AbstractNephronophthisis is an autosomal-recessive kidney disease that is caused by abnormalities in primary cilia. Nephronophthisis-related...
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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical...
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A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
The recent introduction of genome sequencing in genetic analysis has led to the identification of pathogenic variants located in deep introns....
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Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants
Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes....
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Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
Clinical exome/genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many cases remain...