A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder
We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizziness, strabismus,...
Elmentve itt :
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| Dokumentumtípus: | Cikk |
| Megjelent: |
2024
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| Sorozat: | BMC PEDIATRICS
24 No. 1 |
| Tárgyszavak: | |
| doi: | 10.1186/s12887-023-04509-w |
| mtmt: | 34505540 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/30089 |
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| 040 | |a SZTE Publicatio Repozitórium |b hun | ||
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| 100 | 1 | |a Nagy Nikoletta | |
| 245 | 1 | 2 | |a A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder |h [elektronikus dokumentum] / |c Nagy Nikoletta |
| 260 | |c 2024 | ||
| 300 | |a 6 | ||
| 490 | 0 | |a BMC PEDIATRICS |v 24 No. 1 | |
| 520 | 3 | |a We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizziness, strabismus, hypermetropia, complex movement disorder and partial pituitary dysfunction. After years of detailed clinical investigations and careful pediatric care, the exact diagnosis of the patient and the cause of the disease was still unknown.We aimed to perform whole exome sequencing (WES) in order to investigate whether the affected patient is suffering from a rare monogenic disease.Using WES, we identified a novel, de novo frameshift variant (c.1902dupG, p.Ala636SerfsTer12) of the catenin beta-1 (CTNNB1) gene. Assessment of the novel CTNNB1 variant suggested that it is a likely pathogenic one and raised the diagnosis of CTNNB1 neurodevelopmental disorder (OMIM 615,075).Our manuscript may contribute to the better understanding of the genetic background of the recently discovered CTNNB1 neurodevelopmental disorder and raise awareness among clinicians and geneticists. The affected Hungarian family demonstrates that based on the results of the clinical workup is difficult to establish the diagnosis and high-throughput genetic screening may help to solve these complex cases. | |
| 650 | 4 | |a Klinikai orvostan | |
| 700 | 0 | 1 | |a Pál Margit |e aut |
| 700 | 0 | 1 | |a Nagy Dóra |e aut |
| 700 | 0 | 1 | |a Bokor Barbara Anna |e aut |
| 700 | 0 | 1 | |a Zimmermann Aliz |e aut |
| 700 | 0 | 1 | |a Gellén Balázs |e aut |
| 700 | 0 | 1 | |a Salamon András |e aut |
| 700 | 0 | 1 | |a Sztriha László |e aut |
| 700 | 0 | 1 | |a Klivényi Péter |e aut |
| 700 | 0 | 1 | |a Széll Márta |e aut |
| 856 | 4 | 0 | |u http://publicatio.bibl.u-szeged.hu/30089/1/s12887-023-04509-w.pdf |z Dokumentum-elérés |