PuSH - Publication Server of Helmholtz Zentrum München: Connectome analysis in an individual with SETD1B-related neurodevelopmental disorder and epilepsy.

Navigation

Home

Deutsch

Research

Advanced Search

Browse by ...

... Journal

... Publication Type

... Research Data

... Publication Year

Publication overview

Support & Contact

Contact persons

Help

Data protection

Weng, R.* ; Nenning, K.H.* ; Schwarz, M.* ; Riedhammer, K.M.* ; Brunet, T.* ; Wagner, M. ; Kasprian, G.* ; Lehrner, J.* ; Zimprich, F.* ; Bonelli, S.B.* ; Krenn, M.*

Connectome analysis in an individual with SETD1B-related neurodevelopmental disorder and epilepsy.

J. Dev. Behav. Pediatr. 43, E419-E422 (2022)

DOI

PMC

Abstract
Metrics
Extra information

OBJECTIVE: Causative variants in SETD1B, encoding a lysine-specific methyltransferase, have recently been associated with a neurodevelopmental phenotype encompassing intellectual disability, autistic features, pronounced language delay, and epilepsy. It has been noted that long-term and deep phenotype data are needed to further delineate this rare condition. METHODS: In this study, we provide an in-depth clinical characterization with long-term follow-up and trio exome sequencing findings to describe one additional individual affected by SETD1B-related disorder. The diagnostic workup was complemented by a functional magnetic resonance imaging (fMRI) study. RESULTS: We report a 24-year-old male individual with an early-onset neurodevelopmental disorder with epilepsy due to the de novo missense variant c.5699A>G, p.(Tyr1900Cys) in SETD1B (NM_015048.1). He exhibited delayed speech development, autism spectrum disorder, and early-onset epilepsy with absence and generalized tonic-clonic seizures. Despite profoundly impaired communication skills, ongoing improvements regarding language production have been noted in adulthood. fMRI findings demonstrate abnormal language activation and resting-state connectivity structure. CONCLUSION: Our report expands the previously delineated phenotype of SETD1B-related disorder and provides novel insights into underlying disease mechanisms.

Altmetric

Additional Metrics?

[➜Log in]

Edit extra informations Login

Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Connectome ; Epilepsy ; Exome Sequencing ; Fmri ; Setd1b

Journal Journal of Developmental and Behavioral Pediatrics

Quellenangaben Volume: 43, Issue: 6, Pages: E419-E422

Publisher Wolters Kluwer Health

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)