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A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.
Bone Rep
September 2024
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare skeletal dysplasia characterized primarily by progressive osteolysis, particularly affecting the carpal and tarsal bones, accompanied by osteoporosis. In addition, it features subcutaneous nodules on the palms and soles, along with the progressive onset of arthropathy, encompassing joint contractures, pain, swelling and stiffness. It is caused by a deficiency of the Matrix Metalloproteinase-2 (MMP2).
View Article and Find Full Text PDFHomozygous 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 PDFUnambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease.
Genes (Basel)
September 2024
Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Article Synopsis
- This study investigates how case-level American College of Medical Genetics (ACMG) criteria can clarify the pathogenicity of ultrarare variants causing Anderson-Fabry disease, especially when standard gene and variant-level analyses are inconclusive.
- A 52-year-old woman presented symptoms like shortness of breath and chest pain, and family screening revealed affected and unaffected siblings, with some presenting with related symptoms indicating possible genetic connections to the disease.
- Endomyocardial biopsies and advanced genetic testing initially classified a specific variant as uncertain, but incorporating functional data from biopsies and familial segregation eventually led to its reclassification as Likely Pathogenic/Pathogenic.
Multimodal imaging analysis of autosomal recessive bestrophinopathy: Case series.
Medicine (Baltimore)
July 2024
Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro, Tokyo, Japan.
Rationale: Autosomal recessive bestrophinopathy (ARB) is a subtype of bestrophinopathy caused by biallelic mutations of the BEST1 gene, which affect the retinal pigment epithelium (RPE). Studying RPE abnormalities through imaging is essential for understanding ARB. This case series involved the use of multimodal imaging techniques, namely autofluorescence (AF) imaging at 488 nm [short-wavelength AF] and 785 nm [near-infrared AF (NIR-AF)] and polarization-sensitive optical coherence tomography (PS-OCT), to investigate RPE changes in 2 siblings with ARB.
View Article and Find Full Text PDFRadiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome.
Pediatr Rep
May 2024
Pediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria.
Background: Neither radiological phenotypic characteristics nor reconstruction CT scan has been used to study the early anatomical disruption of the cranial bone in children with the so-called idiopathic type of West syndrome.
Material And Methods: The basic diagnostic measures and the classical antiepileptic treatments were applied to these children in accordance with the conventional protocol of investigations and treatment for children with West syndrome. Boys from three unrelated families were given the diagnosis of the idiopathic type of West syndrome, aged 7, 10 and 12 years old.
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