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Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2019 Aug; Vol. 62 (8), pp. 103691. Date of Electronic Publication: 2019 Jun 06. - Publication Year :
- 2019
-
Abstract
- Mutations in the chromatin regulator gene BRPF1 were recently associated with the Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis (IDDDFP). Up till now, clinical data of 22 patients are reported. Besides intellectual disability (ID), ptosis and blepharophimosis are frequent findings, with refraction problems, amblyopia and strabism as other reported ophthalmological features. Animal studies indicate BRPF1 as an important mediator in brain development. However, only 5 of 22 previously reported patients show structural brain abnormalities. We report on an additional patient harboring a novel de novo nonsense mutation p.(Glu219*) in BRPF1. He presented with ID, bilateral iris colobomas, facial nerve palsy and severe hypoplasia of the corpus callosum. Our findings support previous findings of brain abnormalities in BRPF1-mutations and indicates coloboma and facial nerve palsy as possible additional features of IDDDFP syndrome.<br /> (Copyright © 2019. Published by Elsevier Masson SAS.)
- Subjects :
- Agenesis of Corpus Callosum diagnosis
Agenesis of Corpus Callosum physiopathology
Animals
Child, Preschool
Chromatin genetics
Codon, Nonsense genetics
Coloboma diagnostic imaging
Coloboma physiopathology
Corpus Callosum diagnostic imaging
Corpus Callosum pathology
DNA-Binding Proteins
Facial Nerve pathology
Facial Paralysis diagnostic imaging
Facial Paralysis physiopathology
Female
Humans
Infant
Intellectual Disability diagnostic imaging
Intellectual Disability physiopathology
Magnetic Resonance Imaging
Male
Mutation
Adaptor Proteins, Signal Transducing genetics
Agenesis of Corpus Callosum genetics
Coloboma genetics
Facial Paralysis genetics
Intellectual Disability genetics
Nuclear Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 62
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 31176769
- Full Text :
- https://doi.org/10.1016/j.ejmg.2019.103691