Fig. 1

Localization of NBAS variants and characterization of the study cohort: geographical origin, affected organ systems, and age distribution. (a) Top: nonsense and splice site variants as well as deletions of one or more exons. Bottom: missense variants and in-frame deletions. (b) Geographical origin. Due to the founder effect within the Yakut population, currently most patients originate from Russia. (c) Distribution of affected organ systems. The following clinical items were analyzed: acute liver failure, continuously elevated transaminases (abnormality of the liver); short stature (abnormality of growth); reduced bone mineral density, delayed closure of fontanelles, abnormalities of the vertebral column or cervical instability (abnormality of the skeletal system); motor delay, optic atrophy, intellectual disability (abnormality of the nervous system); cutis laxa (abnormality of the integument); decreased circulating IgG, reduced natural killer cell count, Pelger–Huët anomaly (abnormality of the immune system); muscular hypotonia, skeletal muscle atrophy (abnormality of the musculature). (d) Age distribution at last visit.