{Reference Type}: Case Reports
{Title}: A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty - case report and literature review.
{Author}: Wojciechowska K;Zie W;Pietrzyk A;Lejman M;
{Journal}: Ann Agric Environ Med
{Volume}: 31
{Issue}: 2
{Year}: 2024 Jun 27
{Factor}: 1.603
{DOI}: 10.26444/aaem/171758
{Abstract}: 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.