BACKGROUND A rare autosomal recessive genetic disorder,3M syndrome,is characterized by severe intrauterine and postnatal growth retardation.Children with 3M syndrome typically exhibit short stature,facial deformities,...BACKGROUND A rare autosomal recessive genetic disorder,3M syndrome,is characterized by severe intrauterine and postnatal growth retardation.Children with 3M syndrome typically exhibit short stature,facial deformities,long tubular bones,and high vertebral bodies but generally lack mental abnormalities or other organ damage.Pathogenic genes associated with 3M syndrome include CUL7,OBSL1 and CCDC8.The clinical and molecular characteristics of patient with 3M syn-drome are unique and serve as important diagnostic indicators.CASE SUMMARY In this case,the patient displayed square shoulders,scoliosis,long slender tubular bones,and normal neurological development.Notably,the patient did not exhibit the typical dysmorphic facial features,relative macrocephaly,or growth retardation commonly observed in individuals with 3M syndrome.Whole exon sequencing revealed a novel heterozygous c.56681+1G>C(Splice-3)variant and a previously reported nonsense heterozygous c.3341G>A(p.Trp1114Ter)variant of OBSL1.Therefore,it is important to note that the clinical features of 3M syndrome may not always be observable,and genetic confirmation is often required.Additionally,the identification of the c.5683+1G>C variant in OBSL1 is notewor-thy because it has not been previously reported in public databases.CONCLUSION Our study identified a new variant(c.5683+1G>C)of OBSL1 that contributes to expanding the molecular profile of 3M syndrome.展开更多
Polysurfacic tori or kideas are three-dimensional objects formed by rotating a regular polygon around a central axis. These toric shapes are referred to as “polysurfacic” because their characteristics, such as the n...Polysurfacic tori or kideas are three-dimensional objects formed by rotating a regular polygon around a central axis. These toric shapes are referred to as “polysurfacic” because their characteristics, such as the number of sides or surfaces separated by edges, can vary in a non-trivial manner depending on the degree of twisting during the revolution. We use the term “Kideas” to specifically denote these polysurfacic tori, and we represent the number of sides (referred to as “facets”) of the original polygon followed by a point, while the number of facets from which the torus is twisted during its revolution is indicated. We then explore the use of concave regular polygons to generate Kideas. We finally give acceleration for the algorithm for calculating the set of prime numbers.展开更多
文摘BACKGROUND A rare autosomal recessive genetic disorder,3M syndrome,is characterized by severe intrauterine and postnatal growth retardation.Children with 3M syndrome typically exhibit short stature,facial deformities,long tubular bones,and high vertebral bodies but generally lack mental abnormalities or other organ damage.Pathogenic genes associated with 3M syndrome include CUL7,OBSL1 and CCDC8.The clinical and molecular characteristics of patient with 3M syn-drome are unique and serve as important diagnostic indicators.CASE SUMMARY In this case,the patient displayed square shoulders,scoliosis,long slender tubular bones,and normal neurological development.Notably,the patient did not exhibit the typical dysmorphic facial features,relative macrocephaly,or growth retardation commonly observed in individuals with 3M syndrome.Whole exon sequencing revealed a novel heterozygous c.56681+1G>C(Splice-3)variant and a previously reported nonsense heterozygous c.3341G>A(p.Trp1114Ter)variant of OBSL1.Therefore,it is important to note that the clinical features of 3M syndrome may not always be observable,and genetic confirmation is often required.Additionally,the identification of the c.5683+1G>C variant in OBSL1 is notewor-thy because it has not been previously reported in public databases.CONCLUSION Our study identified a new variant(c.5683+1G>C)of OBSL1 that contributes to expanding the molecular profile of 3M syndrome.
文摘Polysurfacic tori or kideas are three-dimensional objects formed by rotating a regular polygon around a central axis. These toric shapes are referred to as “polysurfacic” because their characteristics, such as the number of sides or surfaces separated by edges, can vary in a non-trivial manner depending on the degree of twisting during the revolution. We use the term “Kideas” to specifically denote these polysurfacic tori, and we represent the number of sides (referred to as “facets”) of the original polygon followed by a point, while the number of facets from which the torus is twisted during its revolution is indicated. We then explore the use of concave regular polygons to generate Kideas. We finally give acceleration for the algorithm for calculating the set of prime numbers.