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The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.
Clin Genet
February 2023
Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
The "toe syndactyly, telecanthus and anogenital and renal malformations" (STAR) syndrome is a rare X-linked dominant inherited kidney ciliopathy caused by CCNQ gene mutations. Here, we investigated the genotype and phenotype in the first two twin sisters with a novel tail extension CCNQ variant in Asia. Genetic variants of the pedigree were screened using whole-exome sequence analysis and validated by direct Sanger sequencing.
View Article and Find Full Text PDFClinical and genetic approach in the characterization of newborns with anorectal malformation.
J Matern Fetal Neonatal Med
December 2022
Department of Health Promotion, Mother-Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", Neonatal Intensive Care Unit, University Hospital "P. Giaccone", Palermo, Italy.
Objective: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM).
Study Design: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified.
Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome.
Am J Ophthalmol Case Rep
March 2022
Shiley Eye Institute, Department of Ophthalmology, University of California at San Diego, La Jolla, CA, USA.
Purpose: To report multimodal imaging of novel retinal findings in a case of syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome.
Observations: A 5-year old patient with STAR syndrome, an ultra-rare developmental disorder composed of syndactyly, telecanthus, anogenital, and renal malformations, was found to have bilateral macular yellow pigmentary changes and peripheral retinal pigment epithelial changes in a radial pattern highlighted by fundus autofluorescence (FAF) imaging. Optical coherence tomography (OCT) of the macula revealed foveal hypoplasia, ellipsoid zone disruption, and outer retinal atrophy suggestive of a retinal degeneration.
Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders.
Mol Genet Genomic Med
October 2021
Laboratory of Integrative Biology of Marine Models, Station Biologique de Roscoff, Sorbonne Université/CNRS, Roscoff, France.
Background: CDK10 is a poorly known cyclin M (CycM)-dependent kinase. Loss-of-function mutations in the genes encoding CycM or CDK10 cause, respectively, STAR or Al Kaissi syndromes, which present a constellation of malformations and dysfunctions. Most reported mutations abolish gene expression, but two mutations found in 3' exons could allow the expression of CDK10 and CycM truncated variants.
View Article and Find Full Text PDFA homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
Am J Med Genet A
January 2018
Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy.
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