IJMDC. 2021; 5(1): 413-415

Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report

Authors: Sara A. Alomar, Anfal Alsultan, Halah Raaed AlMuhaidib, Sarah Khalid Aldhahri, Dalal K. Bubshait.

ABSTRACT

Background: Noonan syndrome is an autosomal dominant syndrome that is characterized by specific features including congenital heart defect, namely pulmonary stenosis, thorax deformity, short stature, and skin manifestations. Moreover, the syndrome is characterized by dysmorphic facial features of low-set ears, hypertelorism, ptosis, and downward slanting palpebral fissures. Noonan syndrome is associated with RASopathies, a group of overlapping genotype-phenotype-related syndromes. Eleven genes have been found to be causing Noonan syndrome, including PTPN11, SOS1, CBL, BRAF, RAF1, SHOC2, MAP2K1, RIT1, NRAS, KRAS, and RRAS. It has been reported that NRAS mutation was detected in Noonan syndrome which is very limited and estimated to be only 2% of all Noonan syndrome cases. Case Presentation: In this paper, we report a rare case of mutation of the NRAS gene causing Noonan syndrome type 6 in a 10-year-old Saudi child. The patient in his early infancy had early motor delay. Moreover, he had some of the characteristics of the disease, namely the dysmorphic features, including low-set ears, hypertelorism, short neck, downward slanting palpebral fissures, and wide-spaced nipples. He has left eye ptosis and refractory errors. In addition, the echocardiogram showed pulmonary stenosis. Conclusion: Noonan syndrome is a clinically and genetically heterogenous autosomal dominant disorder. The classical clinical features used to diagnose it include short stature and congenital heart disease. However, it can affect all body systems. Thus, achieving an accurate diagnosis is crucial.

Keywords:
RASopathies, Noonan syndrome, NRAS, Autosomal dominant, Saudi Arabia


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Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report


Authors
Sara A Alomar
Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
PubMed articlesGoogle scholar articles

Anfal Alsultan
College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
PubMed articlesGoogle scholar articles

Halah Raaed AlMuhaidib
College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
PubMed articlesGoogle scholar articles

Sarah Khalid Aldhahri
Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
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Dalal K Bubshait
Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
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Correspondence to:
. Halah Raaed AlMuhaidib, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; HalahAlMuhaidib@gmail.com

Publication history
Received 15 Dec 2020
Accepted 25 Dec 2020
Published online 06 Jan 2021
Published in print 11 Jan 2021

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Pubmed Style

Alomar SA, Alsultan A, AlMuhaidib HR, Aldhahri SK, Bubshait DK. Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report. IJMDC. 2021; 5(1): 413-415. doi:10.24911/IJMDC.51-1608055911


Web Style

Alomar SA, Alsultan A, AlMuhaidib HR, Aldhahri SK, Bubshait DK. Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report. http://www.ijmdc.com/?mno=31034 [Access: March 07, 2021]. doi:10.24911/IJMDC.51-1608055911


AMA (American Medical Association) Style

Alomar SA, Alsultan A, AlMuhaidib HR, Aldhahri SK, Bubshait DK. Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report. IJMDC. 2021; 5(1): 413-415. doi:10.24911/IJMDC.51-1608055911


Vancouver/ICMJE Style

Alomar SA, Alsultan A, AlMuhaidib HR, Aldhahri SK, Bubshait DK. Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report. IJMDC. (2021), [cited March 07, 2021]; 5(1): 413-415. doi:10.24911/IJMDC.51-1608055911


Harvard Style

Alomar, S. A., Alsultan, . A., AlMuhaidib, . H. R., Aldhahri, . S. K. & Bubshait, . D. K. (2021) Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report. IJMDC, 5 (1), 413-415. doi:10.24911/IJMDC.51-1608055911


Turabian Style

Alomar, Sara A., Anfal Alsultan, Halah Raaed AlMuhaidib, Sarah Khalid Aldhahri, and Dalal K. Bubshait. 2021. Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report. International Journal of Medicine in Developing Countries, 5 (1), 413-415. doi:10.24911/IJMDC.51-1608055911


Chicago Style

Alomar, Sara A., Anfal Alsultan, Halah Raaed AlMuhaidib, Sarah Khalid Aldhahri, and Dalal K. Bubshait. "Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report." International Journal of Medicine in Developing Countries 5 (2021), 413-415. doi:10.24911/IJMDC.51-1608055911


MLA (The Modern Language Association) Style

Alomar, Sara A., Anfal Alsultan, Halah Raaed AlMuhaidib, Sarah Khalid Aldhahri, and Dalal K. Bubshait. "Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report." International Journal of Medicine in Developing Countries 5.1 (2021), 413-415. Print. doi:10.24911/IJMDC.51-1608055911


APA (American Psychological Association) Style

Alomar, S. A., Alsultan, . A., AlMuhaidib, . H. R., Aldhahri, . S. K. & Bubshait, . D. K. (2021) Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report. International Journal of Medicine in Developing Countries, 5 (1), 413-415. doi:10.24911/IJMDC.51-1608055911


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