A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty - case report and literature review.
Ann Agric Environ Med
; 31(2): 306-310, 2024 Jun 27.
Article
in En
| MEDLINE
| ID: mdl-38940118
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Puberty, Precocious
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N-Terminal Acetyltransferase A
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N-Terminal Acetyltransferase E
Limits:
Child, preschool
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Female
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Humans
Language:
En
Journal:
Ann Agric Environ Med
Year:
2024
Document type:
Article