Fryns-Aftimos syndrome (MIM 606155) is a rare condition characterised by pachygyria, severe mental retardation, epilepsy and characteristic facies. We report a patient who, unlike previously reported cases, remains seizure free with relatively mild developmental delay and facial phenotype.
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Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder.
Eur J Med Genet
September 2023
Gazi University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey. Electronic address:
Suleiman-El-Hattab syndrome (SULEHS, OMIM #618950) is an autosomal recessive multisystem developmental disorder characterized by distinctive facial appearance, global developmental delay/intellectual disability, poor expressive speech and happy demeanor. SULEHS is an ultra-rare disorder associated with biallelic loss-of-function variants of the TASP1 gene, and up-to-date, seven patients from five families have been reported in the literature. Loss of TASP1 function has been reported to alter H3K4 histone modifications and expression of TFIIA and HOX transcription factors in the SULEHS phenotype.
View Article and Find Full Text PDFA likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.
Am J Med Genet A
June 2023
Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disease (AD) caused by heterozygous variants in ACTB (BRWS1) or ACTG1 (BRWS2) genes. BRWS features developmental delay/intellectual disability of variable degree and craniofacial dysmorphisms. Brain abnormalities (especially pachygyria), microcephaly, epilepsy, as well as hearing impairment, cardiovascular and genitourinary abnormalities may be present.
View Article and Find Full Text PDFObsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
J Neural Transm (Vienna)
November 2022
Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Symptoms of obsessive-compulsive disorder (OCD) may rarely occur in the context of genetic syndromes. So far, an association between obsessive-compulsive symptoms (OCS) and ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome has not been described as yet. A thoroughly phenotyped patient with OCS and ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome is presented.
View Article and Find Full Text PDFFrameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.
Eur J Cell Biol
April 2022
Institute for Biophysical Chemistry and Structural Biochemistry, Medizinische Hochschule Hannover, Hannover 30625, Germany; Division for Structural Biochemistry, Hannover Medical School, Carl Neuberg Str. 1, D-30625 Hannover, Germany; RESiST, Cluster of Excellence 2155, Medizinische Hochschule Hannover, 30625 Hannover, Germany. Electronic address:
Heterozygous dominant mutations in the ubiquitously produced cytoskeletal β-actin isoform lead to a broad range of human disease phenotypes, which are currently classified as three distinct clinical entities termed Baraitser-Winter-Cerebrofrontofacial syndrome (BWCFF), ACTB-associated pleiotropic malformation syndrome with intellectual disability (ACTB-PMSID), and ACTB-associated syndromic thrombocytopenia (ACTB-AST). The latter two are distinguishable from BWCFF by the presence of milder craniofacial features and less pronounced developmental abnormalities, or the absence of craniofacial features in combination with a characteristic thrombocytopenia with platelet anisotropy. Production and correct function of β-actin is required for multiple essential processes in all types of cells.
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