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Case Reports
. 2023 Feb 20;17(1):12.
doi: 10.1186/s40246-023-00460-0.

Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene

Setila Dalili  1 , Seyyedeh Azade Hoseini Nouri  2 , Reza Bayat  1 , Shahin Koohmanaee  1 , Manijeh Tabrizi  1 , Marjaneh Zarkesh  1 , Alireza Tarang  3 , Nejat Mahdieh  4   5
Affiliations
Case Reports

Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene

Setila Dalili et al. Hum Genomics. .

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: Growth deficiency; NF1; Neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome.

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Conflict of interest statement

There authors declare no conflicts of interest.

Figures

Fig. 1
Fig. 1
A Hypertelorism, low set ears, and epicanthal folds in a girl with NFNS, B Webbed neck
Fig. 2
Fig. 2
A, B Multiple cafe-au-lait spots with various sizes on the trunk. Dark brown hyperpigmented macules on the dorsal surface of tongue (C) and sclera (D)
See this image and copyright information in PMC

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