TY - JOUR AU - Zlotina, Anna AU - Melnik, Olesia AU - Fomicheva, Yulia AU - Skitchenko, Rostislav AU - Sergushichev, Alexey AU - Shagimardanova, Elena AU - Gusev, Oleg AU - Gazizova, Guzel AU - Loevets, Tatiana AU - Vershinina, Tatiana AU - Kozyrev, Ivan AU - Gordeev, Mikhail AU - Vasichkina, Elena AU - Pervunina, Tatiana AU - Kostareva, Anna PY - 2020 DA - 2020/11/20 TI - A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report JO - BMC Medical Genomics SP - 175 VL - 13 IS - 1 AB - Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs.By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus responsible for TPT-PS has been mapped to the 7q36.3 region harboring a long-range sonic hedgehog (SHH) regulatory sequence (ZRS). Both single-nucleotide variants and complete duplications of ZRS were shown to cause TPT-PS and similar limb phenotypes. TPT-PS usually forms as isolated limb pathology not associated with additional malformations, in particular, with cardiovascular abnormalities. SN - 1755-8794 UR - https://doi.org/10.1186/s12920-020-00821-x DO - 10.1186/s12920-020-00821-x ID - Zlotina2020 ER -