Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.

Calvarial doughnut lesions (CDL) with bone fragility with or without spondylometaphyseal dysplasia (MIM: #126550) is a rare autosomal dominant skeletal disorder characterized by low bone mineral density, spinal and peripheral fractures, and specific sclerotic lesions of the cranial bones. In the current classification of skeletal disorders, the disease is included in the group of bone fragility disorders along with osteogenesis imperfecta. The disease is caused by pathogenic variants in the SGMS2 gene, the protein product of which is sphingomyelin synthase 2, which primarily contributes to sphingomyelin (SM) synthesis-the main lipid component of the plasma membrane essential for bone mineralization. To date, 15 patients from eight families with CDL with bone fragility have been described in the literature, and a recurrent variant c.148C>T (p.Arg50Ter) in the SGMS2 gene has been identified, which was found in patients from six families. We diagnosed the disease in 11 more patients from three unrelated families, caused by the same heterozygous nonsense variant c.148C>T (p.Arg50Ter) in the SGMS2 gene. Our results show wide interfamilial and intrafamilial phenotypic variability in patients with a detected recurrent variant in the SGMS2 gene, the presence of which must be taken into consideration in the diagnosis of the disease. The primary analysis of this variant will contribute to optimal molecular genetic diagnostics, which can reduce diagnostic costs and time.

Structure of ordered coaxial and scroll nanotubes: general approach.

The explicit formulas for atomic coordinates of multiwalled coaxial and cylindrical scroll nanotubes with ordered structure are developed on the basis of a common oblique lattice. According to this approach, a nanotube is formed by transfer of its bulk analogue structure onto a cylindrical surface (with a circular or spiral cross section) and the chirality indexes of the tube are expressed in the number of unit cells. The monoclinic polytypic modifications of ordered coaxial and scroll nanotubes are also discussed and geometrical conditions of their formation are analysed. It is shown that tube radii of ordered multiwalled coaxial nanotubes are multiples of the layer thickness, and the initial turn radius of the orthogonal scroll nanotube is a multiple of the same parameter or its half.

Quantitative theory of diffraction by ordered coaxial nanotubes: reciprocal-lattice and diffraction pattern indexing.

A quantitative theory of diffraction by right- and left-handed coaxial nanotubes with an ordered structure is developed. Their reciprocal lattices, including pseudo-orthogonal nodes, are studied. The explicit formulas that govern relations between direct and reciprocal lattices of a nanotube are achieved and a simple descriptive tool for diffraction pattern indexing is proposed.