Clinical variability in a family with noonan syndrome with a homozygous PTPN11 gene variant in two individuals

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dc.contributor.authorYıldırım, Ruken
dc.contributor.authorÜnal, Edip
dc.contributor.authorÖzalkak, Şervan
dc.contributor.authorAkalın, Akçahan
dc.contributor.authorAykut, Ayça
dc.contributor.authorYılmaz, Nevzat
dc.date.accessioned2024-04-24T17:24:25Z
dc.date.available2024-04-24T17:24:25Z
dc.date.issued2024
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractObjective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The aim of this study was to evaluate two patients with a previously reported PTPN11 homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment. Methods: Nine patients diagnosed with NS due to the same variants in the PTPN11 gene were included in the study. Results: The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was -3.24 +/- 1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03 +/- 17.09 and the verbal score was 82.88 +/- 9.42. Genetic analysis revealed a variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two. Conclusion: A previously described in PTPN11 affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous PTPN11 case reports published, coming from two related consanguineous families.en_US
dc.identifier.citationYıldırım, R., Ünal, E., Özalkak, Ş., Akalın, A., Aykut, A. ve Yılmaz, N. (2024). Clinical variability in a family with noonan syndrome with a homozygous PTPN11 gene variant in two individuals. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 16(1), 76-83.
dc.identifier.doi10.4274/jcrpe.galenos.2023.2023-5-16
dc.identifier.endpage83en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.pmid37847107
dc.identifier.scopus2-s2.0-85187543511
dc.identifier.scopusqualityQ2
dc.identifier.startpage76en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2023.2023-5-16
dc.identifier.urihttps://hdl.handle.net/11468/19664
dc.identifier.volume16en_US
dc.identifier.wosWOS:001192163700012
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPtpn11en_US
dc.subjectNoonan Syndromeen_US
dc.subjectShort Statureen_US
dc.titleClinical variability in a family with noonan syndrome with a homozygous PTPN11 gene variant in two individualsen_US
dc.titleClinical variability in a family with noonan syndrome with a homozygous PTPN11 gene variant in two individuals
dc.typeArticleen_US

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