Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
The present case report is about a 17-year-old female patient, born to a non-consanguineous family of a Ukrainian origin, who presented with short and sparse scalp hair, most pronounced in the temporal area [] and in a unique triangular shape in the mid occipital scalp []. Additional findings included beaked nose with a long philtrum and an allergic crease [], widened proximal interphalangeal joints [], short toes [] and onycholysis of finger- and toenails. Sequence analysis of the TRPS1 gene revealed a novel c. 2396_2397 insG frameshift mutation in exon 5, leading to a premature stop at codon 800 [].