Severe neurodevelopmental disease caused by a homozygous TLK2 variant
Abstract: A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, or missense changes principally located at the C-terminal end of the protein mostly resulting in haploinsufficiency of TLK2. Through whole exome sequencing, we identified a homozygous missense variant in TLK2 in a patient showing more severe symptoms than those previously described, including cerebellar vermis hypoplasia and West syndrome. Both parents are heterozygous for the variant and clinically unaffected highlighting that recessive variants in TLK2 can also be disease causing and may act through a different pathomechanism
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
European journal of human genetics. - 28, 3 (2020) , 383-387, ISSN: 1476-5438
- Ereignis
-
Veröffentlichung
- (wo)
-
Freiburg
- (wer)
-
Universität
- (wann)
-
2020
- Urheber
-
Töpf, Ana
Oktay, Yavuz
Balaraju, Sunitha
Yilmaz, Elmasnur
Sonmezler, Ece
Yis, Uluc
Laurie, Steven
Thompson, Rachel
Roos, Andreas
MacArthur, Daniel G.
Yaramis, Ahmet
Güngör, Serdal
Lochmüller, Hanns
Hiz, Semra
Horvath, Rita
- DOI
-
10.1038/s41431-019-0519-x
- URN
-
urn:nbn:de:bsz:25-freidok-1553244
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:58 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Töpf, Ana
- Oktay, Yavuz
- Balaraju, Sunitha
- Yilmaz, Elmasnur
- Sonmezler, Ece
- Yis, Uluc
- Laurie, Steven
- Thompson, Rachel
- Roos, Andreas
- MacArthur, Daniel G.
- Yaramis, Ahmet
- Güngör, Serdal
- Lochmüller, Hanns
- Hiz, Semra
- Horvath, Rita
- Universität
Entstanden
- 2020
Ähnliche Objekte (12)
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders
Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations
Recommendations for improving the quality of rare disease registries
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders
Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations
Recommendations for improving the quality of rare disease registries
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders
Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations