CASE REPORT
A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty – case report and literature review
1
Independent Laboratory of Genetic Diagnostics, Medical University, Lublin, Poland
2
Student Scientific Society, Independent Laboratory of Genetic Diagnostics, Medical University Lublin, Poland
3
MEDGEN Medical Centre, Warsaw, Poland
Corresponding author
Katarzyna Wojciechowska
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, Lublin, Poland
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, Lublin, Poland
KEYWORDS
TOPICS
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.
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