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Clinical interest of molecular study in cases of isolated midline craniosynostosis
In some cases of infants with apparently isolated single-suture synostosis, an underlying variant can be found. We aimed to determine the molecular...
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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
Pathogenic, largely truncating variants in the ETS2 repressor factor ( ERF ) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK...
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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Biallelic pathogenic variants in MAP3K20 , which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM),...
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De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of the cranial suture between the parietal and occipital...
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Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived...
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An Exploration of the Practice of CT Modalities to Evaluate Anterior Cranial Deformities in Craniosynostosis
Craniosynostosis is a condition of the premature fusion of one or more cranial sutures, which results in characteristic skull-shape deformities and...
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Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of...
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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
PurposeGenome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses...
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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients
Carpenter syndrome (CRPTS) is a rare autosomal recessive condition caused by biallelic variants in genes that encode negative regulators of hedgehog...
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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
An accurate diagnosis of syndromic craniosynostosis (CS) is important for personalized treatment, surveillance, and genetic counselling. We describe...
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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
PurposeEnrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and...
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A second hotspot for pathogenic exon-skip** variants in CDC45
Biallelic pathogenic variants in CDC45 are associated with Meier-Gorlin syndrome with craniosynostosis (MGORS type 7), which also includes short...
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Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1
Zic family member 1 ( ZIC1 ), a gene located on chromosome 3q24, encodes a transcription factor with zinc finger domains that is essential for the...
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CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
CYP26B1 metabolizes retinoic acid in the develo** embryo to regulate its levels. A limited number of individuals with pathogenic variants in CYP26B1 ...
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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
BackgroundERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and...
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SMAD6-deficiency in human genetic disorders
SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated...
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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These...
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The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing. Consequently, this...
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The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants
Genetic variants in IL6ST encoding the shared cytokine receptor for the IL-6 cytokine family GP130 have been associated with a diverse number of...
