Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
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 wer...
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| Format: | Article |
| Language: | English |
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BMC
2023-02-01
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| Series: | Human Genomics |
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| Online Access: | https://doi.org/10.1186/s40246-023-00460-0 |
| _version_ | 1797864112620830720 |
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| author | Setila Dalili Seyyedeh Azade Hoseini Nouri Reza Bayat Shahin Koohmanaee Manijeh Tabrizi Marjaneh Zarkesh Alireza Tarang Nejat Mahdieh |
| author_facet | Setila Dalili Seyyedeh Azade Hoseini Nouri Reza Bayat Shahin Koohmanaee Manijeh Tabrizi Marjaneh Zarkesh Alireza Tarang Nejat Mahdieh |
| author_sort | Setila Dalili |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T22:46:18Z |
| format | Article |
| id | doaj.art-cc075eee30654e3784c217ff1b0fbc4b |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-04-09T22:46:18Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-cc075eee30654e3784c217ff1b0fbc4b2023-03-22T11:50:11ZengBMCHuman Genomics1479-73642023-02-011711610.1186/s40246-023-00460-0Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 geneSetila Dalili0Seyyedeh Azade Hoseini Nouri1Reza Bayat2Shahin Koohmanaee3Manijeh Tabrizi4Marjaneh Zarkesh5Alireza Tarang6Nejat Mahdieh7Pediatric Diseases Research Center, Guilan University of Medical SciencesPediatric Diseases Research Center, Guilan University of Medical SciencesPediatric Diseases Research Center, Guilan University of Medical SciencesPediatric Diseases Research Center, Guilan University of Medical SciencesPediatric Diseases Research Center, Guilan University of Medical SciencesPediatric Diseases Research Center, Guilan University of Medical SciencesAgriculture Biotechnology Research Institute, Agricultural Research, Education and Extension Organization (AREEO)Growth and Development Research Center, Tehran University of Medical SciencesAbstract 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.https://doi.org/10.1186/s40246-023-00460-0Neurofibromatosis type 1Neurofibromatosis-Noonan syndromeNF1Growth deficiency |
| spellingShingle | Setila Dalili Seyyedeh Azade Hoseini Nouri Reza Bayat Shahin Koohmanaee Manijeh Tabrizi Marjaneh Zarkesh Alireza Tarang Nejat Mahdieh Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene Human Genomics Neurofibromatosis type 1 Neurofibromatosis-Noonan syndrome NF1 Growth deficiency |
| title | Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene |
| title_full | Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene |
| title_fullStr | Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene |
| title_full_unstemmed | Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene |
| title_short | Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene |
| title_sort | neurofibromatosis noonan syndrome and growth deficiency in an iranian girl due to a pathogenic variant in nf1 gene |
| topic | Neurofibromatosis type 1 Neurofibromatosis-Noonan syndrome NF1 Growth deficiency |
| url | https://doi.org/10.1186/s40246-023-00460-0 |
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