Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Abnormalities, Multiple
/ genetics
Adolescent
Adult
Child
Child, Preschool
Chromatin Assembly and Disassembly
/ genetics
Chromosome Deletion
Developmental Disabilities
/ genetics
Epilepsy
/ genetics
Facies
Female
Haploinsufficiency
/ genetics
Humans
Infant
Intellectual Disability
/ genetics
Language Development Disorders
/ genetics
Male
Microcephaly
/ genetics
Middle Aged
Neurodevelopmental Disorders
/ genetics
Phenotype
Transcription Factors
/ genetics
Young Adult
chromatin remodeling
epilepsy
microcephaly
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
revised:
06
01
2021
received:
28
08
2020
accepted:
12
01
2021
pubmed:
2
2
2021
medline:
10
8
2021
entrez:
1
2
2021
Statut:
ppublish
Résumé
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.
Identifiants
pubmed: 33522091
doi: 10.1002/ajmg.a.62102
pmc: PMC8048530
doi:
Substances chimiques
Transcription Factors
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1366-1378Informations de copyright
© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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