A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder
© 2024. The Author(s)..
PURPOSE: 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.
METHODS: We aimed to perform whole exome sequencing (WES) in order to investigate whether the affected patient is suffering from a rare monogenic disease.
RESULTS: 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).
CONCLUSIONS: 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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:24 |
|---|---|
| Enthalten in: |
BMC pediatrics - 24(2024), 1 vom: 15. Jan., Seite 47 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Nagy, Nikoletta [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Beta Catenin |
|---|
| Anmerkungen: |
Date Completed 16.02.2024 Date Revised 16.02.2024 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1186/s12887-023-04509-w |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM367161117 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM367161117 | ||
| 003 | DE-627 | ||
| 005 | 20240216232731.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240116s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s12887-023-04509-w |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1295.xml |
| 035 | |a (DE-627)NLM367161117 | ||
| 035 | |a (NLM)38225558 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Nagy, Nikoletta |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 16.02.2024 | ||
| 500 | |a Date Revised 16.02.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2024. The Author(s). | ||
| 520 | |a PURPOSE: 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 | ||
| 520 | |a METHODS: We aimed to perform whole exome sequencing (WES) in order to investigate whether the affected patient is suffering from a rare monogenic disease | ||
| 520 | |a RESULTS: 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) | ||
| 520 | |a CONCLUSIONS: 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 Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a CTNNB1 | |
| 650 | 4 | |a High-throughput | |
| 650 | 4 | |a Neurodevelopmental disorder | |
| 650 | 4 | |a Truncating | |
| 650 | 4 | |a Whole exome sequencing | |
| 650 | 7 | |a beta Catenin |2 NLM | |
| 650 | 7 | |a CTNNB1 protein, human |2 NLM | |
| 700 | 1 | |a Pál, Margit |e verfasserin |4 aut | |
| 700 | 1 | |a Nagy, Dóra |e verfasserin |4 aut | |
| 700 | 1 | |a Bokor, Barbara Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Zimmermann, Aliz |e verfasserin |4 aut | |
| 700 | 1 | |a Gellén, Balázs |e verfasserin |4 aut | |
| 700 | 1 | |a Salamon, András |e verfasserin |4 aut | |
| 700 | 1 | |a Sztriha, László |e verfasserin |4 aut | |
| 700 | 1 | |a Klivényi, Péter |e verfasserin |4 aut | |
| 700 | 1 | |a Széll, Márta |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t BMC pediatrics |d 2001 |g 24(2024), 1 vom: 15. Jan., Seite 47 |w (DE-627)NLM111595932 |x 1471-2431 |7 nnns |
| 773 | 1 | 8 | |g volume:24 |g year:2024 |g number:1 |g day:15 |g month:01 |g pages:47 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1186/s12887-023-04509-w |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 24 |j 2024 |e 1 |b 15 |c 01 |h 47 | ||