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مقاله چاپ شده اعضای مرکز در اردیبهشت 1402

مقاله چاپ شده اعضای مرکز تحقیقات بیماریهای کودکان اردیبهشت1402

مقاله چاپ شده اعضای مرکز تحقیقات بیماریهای کودکان با ایمپکت فاکتور 6.481 در مجله Human Genomics

مقاله چاپ شده اعضای مرکز تحقیقات بیماریهای کودکان با ایمپکت فاکتور 6.481 در مجله Human Genomics
Authors
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang, Nejat Mahdieh
Publication date
2023/12
Journal
Human Genomics
Volume
17
Issue
1
Pages
1-6
Publisher
BioMed Central
Description
Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene. Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity prediction was also done using bioinformatics tools. The chief compliant of the patient was short stature and lack of proper weight gain. Other symptoms were developmental delay, learning disability, inadequate speech skill, broad forehead, hypertelorism, and epicanthal folds, low set ears and webbed neck. A small deletion, c.4375-4377delGAA, was found in NF1 gene using WES. This variant was classified as pathogenic according to ACMG. NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.
  • گروه خبری : اخبار مرکز تحقیقات کودکان,pediatrics news,اخبار اختصاصی,اطلاعیه ها,رویدادها
  • کد خبر : 105941
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