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Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype.
J Clin Endocrinol Metab
December 2024
Research Centre for Medical Genetics, Moscow, Russian Federation.
Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy.
Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels.
Materials And Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting.
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.
J Hum Genet
November 2024
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
FAM111A (family with sequence similarity 111 member A) is a serine protease and removes covalent DNA-protein cross-links during DNA replication. Heterozygous gain-of-function variants in FAM111A cause skeletal dysplasias, such as the perinatal lethal osteocraniostenosis and the milder Kenny-Caffey syndrome (KCS). We report two siblings born to consanguineous parents with dysmorphic craniofacial features, postnatal growth retardation, ophthalmologic manifestations, hair and nail anomalies, and skeletal abnormalities such as thickened cortex and stenosis of the medullary cavity of the long bones suggestive of KCS.
View Article and Find Full Text PDFCochlear implantation in a familial rare syndromic ossification-related deafness and literature review.
Acta Otolaryngol
October 2024
Department of Otorhinolaryngology and Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, P. R. China.
Background: Kenny-Caffey Syndrome type 2 (KCS2) is a genetic disease affecting bone metabolism. However, cochlear implantation (CI) results have yet to be published in detail.
Objective: This study presents the gene, clinical characteristics, surgical outcomes, and literature review of 2 patients with sensorineural hearing loss related to KCS2.
Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.
J Appl Genet
August 2024
Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
We report three patients with the novel variant c.100 + 1G > A of the TBCE gene and describe the presented clinical phenotype in detail. We also systematically reviewed the literature for clinical similarities and dissimilarities among all known patients with pathogenic TBCE variants.
View Article and Find Full Text PDFMother and daughter with Kenny-Caffey syndrome: the adult phenotype.
Eur J Med Genet
June 2024
Medical Genetics Unit, Department of Mother and Child, Ferrara University Hospital, Ferrara, Italy.
Kenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the FAM111A gene. Here we describe the KCS phenotype resulting from the monoallelic FAM111A variant p.
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