Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and Epilepsy.
J Dev Behav Pediatr
; 43(6): e419-e422, 2022 08 01.
Article
en En
| MEDLINE
| ID: mdl-35385430
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
N-Metiltransferasa de Histona-Lisina
/
Epilepsia
/
Conectoma
/
Trastornos del Neurodesarrollo
Límite:
Humans
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Male
Idioma:
En
Revista:
J Dev Behav Pediatr
Año:
2022
Tipo del documento:
Article
País de afiliación:
Austria