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Novel Loss of Function Variants in Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
Genes (Basel)
October 2023
Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.
Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Strømme syndrome and, using high-throughput sequencing approaches, we identified novel pathogenic variants in , including one structural variant, giving a genetic diagnosis to the patients.
View Article and Find Full Text PDFBiallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Am J Med Genet C Semin Med Genet
March 2022
Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
Biallelic loss-of-function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males and one female) carrying CENPF biallelic variants, including two missense variants in homozygous state and four LoF variants, were identified by exome sequencing. All individuals had variable degree of developmental delay/intellectual disability and microcephaly (ranging from -2.
View Article and Find Full Text PDFThe first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.
Am J Med Genet A
May 2022
Clinical Genetic Service, Department of Health, HKSAR, Hong Kong.
Strømme syndrome (MIM #243605) is a rare autosomal recessive ciliopathy resulting from compound heterozygous or homozygous pathogenic alterations in the CENPF gene (# 600236). Although there are a number of case reports featuring individuals with clinically compatible Strømme syndrome, only 13 affected individuals had molecular confirmation worldwide. Herein, we report a 24 years old Chinese gentleman with molecularly confirmed Strømme syndrome with compound heterozygous pathogenic nonsense variants in NM_016343.
View Article and Find Full Text PDFRenal involvement and Strømme syndrome.
Clin Kidney J
January 2021
Dialysis Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Strømme syndrome is a rare autosomal recessive congenital disorder involving multiple systems. Centromeric protein F () is the causative gene of the disease, and variants are usually linked to lethal outcomes either during the foetal stage or in early life. We present a young adult with a genetic diagnosis of Strømme syndrome who-in addition to classic microcephalia, microphthalmia and intestinal atresia (apple peel-type)-experienced slow and unexpected evolution to end-stage renal disease (ESRD).
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