%0 Case Reports
%T A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty - case report and literature review.
%A Wojciechowska K
%A Zie W
%A Pietrzyk A
%A Lejman M
%J Ann Agric Environ Med
%V 31
%N 2
%D 2024 Jun 27
%M 38940118
%F 1.603
%R 10.26444/aaem/171758
%X The NAA10 gene encodes N-alpha-acetyltransferase 10 which plays an important role in cell growth, differentiation, DNA damage, metastasis, apoptosis, stress response and autophagy. Defects in the NAA10 gene correlate with the diagnosis of NAA10-related syndrome (Ogden syndrome). The most common symptoms of NAA10-related syndrome are: global developmental delay, non-verbal or limited speech, autism spectrum disorder, feeding difficulties, motor delay, muscle tone disturbances, and long QT syndrome. To-date, there are about 100 patients who have been reported with this condition. The case report presents the clinical study of a girl aged 4 years and 3 months diagnosed with Ogden syndrome. She had many characteristic features of the disorder, as well as precocious puberty. This girl represents the case of a patient with p.Arg83Cys mutation in NAA10 gene as well as precocious puberty.