A novel MAOA gene variant: Brunner syndrome, a rare syndrome, is associated with a wide range of psychiatric symptoms

Basit Öğe Kaydı
dc.authorid0000-0002-4574-421X
dc.authorid0000-0001-6574-8149
dc.contributor.authorUnsel Bolat, Gul
dc.contributor.authorTuran, Sila
dc.contributor.authorBolat, Hilmi
dc.date.accessioned2025-04-15T10:53:04Z
dc.date.available2025-04-15T10:53:04Z
dc.date.issued2024
dc.departmentEge Üniversitesi, Tıp Fakültesi, Dahili Bilimler Bölümü, Nöroloji Ana Bilim Dalı
dc.description.abstractBrunner syndrome is a rare genetic disorder that associated with mutations in the MAOA gene. It has been linked to a number of psychiatric disorders. We present detailed information on psychiatric evaluation of a case carrying a novel MAOA gene variant of p.(Thr408Met). The patient was referred to our clinic with a history of attention problems, motor coordination difficulties and a tendency to bite objects. Following a comprehensive psychiatric evaluation, the patient was diagnosed with developmental coordination disorder, articulation disorder and attention deficit hyperactivity disorder (ADHD). MAOA mutations are rarely reported in the literature. To date, a total of 23 MAOA gene variants, mostly missense variants, have been reported through the HGMD database (Professional 2023.4).Neurodevelopmental symptoms may vary in severity and diversity among patients with Brunner syndrome. Different degrees of intellectual disability have been found in previously reviewed cohorts of Brunner syndrome. In our affected patient, cognitive development and academic achievement were at a similar level to his peers. Additionally, our patient exhibited symptoms suggestive of developmental coordination disorder. Our findings show that genetic mutations in MAOA can lead to a wide range of clinical symptoms and underline the need for comprehensive genetic and clinical evaluations.
dc.identifier.citationÜnsel‐Bolat, G., Turan, S., & Bolat, H. (2024). A novel MAOA gene variant: Brunner syndrome, a rare syndrome, is associated with a wide range of psychiatric symptoms. International Journal of Developmental Neuroscience, 84(8), 972-976.
dc.identifier.doi10.1002/jdn.10390
dc.identifier.endpage976
dc.identifier.issn07365748
dc.identifier.issue8
dc.identifier.pmid39450862
dc.identifier.scopus2-s2.0-85207190638
dc.identifier.scopusqualityQ3
dc.identifier.startpage972
dc.identifier.urihttps://doi.org/10.1002/jdn.10390
dc.identifier.urihttps://hdl.handle.net/11454/117080
dc.identifier.volume84
dc.identifier.wosWOS:001340833300001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorUnsel Bolat, Gul
dc.institutionauthorBolat, Hilmi
dc.institutionauthorid0000-0002-4574-421X
dc.institutionauthorid0000-0001-6574-8149
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofInternational Journal of Developmental Neuroscience
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectADHD
dc.subjectarticulation disorder
dc.subjectBrunner syndrome
dc.subjectdevelopmental coordination disorder
dc.subjectgenetic mutation
dc.subjectMAOA
dc.titleA novel MAOA gene variant: Brunner syndrome, a rare syndrome, is associated with a wide range of psychiatric symptoms
dc.typeArticle

Dosyalar

Lisans paketi
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
license.txt
Boyut:
1.17 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu