Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12.
BICRA
Coffin-Siris syndrome 12
Exome sequencing
Neurodevelopmental disorder
SSRIDD
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
25
07
2022
revised:
09
11
2022
accepted:
10
11
2022
pubmed:
28
11
2022
medline:
14
2
2023
entrez:
27
11
2022
Statut:
ppublish
Résumé
Pathogenic heterozygous variants in BICRA have recently been identified in patients with SWI/SNF-related intellectual disability (SSRIDD) - Coffin-Siris syndrome 12. So far, only one article reported SSRIDD associated with pathogenic variants in BICRA. The patient's phenotype include low birth weight, microcephaly, neurodevelopment delay, visual, gastrointestinal, urinary tract impairment, and craniofacial dysmorphism. Whole exome sequencing revealed a novel pathogenic heterozygous variant in exon 6 of BICRA gene c.535C > T (p.(Gln179*)). Sanger sequencing confirmed de novo origin. The clinical findings confirm and supplement the previous study which showed that pathogenic variant in BICRA is commonly characterized by neurodevelopmental, gastrointestinal, and ophthalmologic symptoms, growth retardation, as well as craniofacial dysmorphism.
Sections du résumé
BACKGROUND
BACKGROUND
Pathogenic heterozygous variants in BICRA have recently been identified in patients with SWI/SNF-related intellectual disability (SSRIDD) - Coffin-Siris syndrome 12. So far, only one article reported SSRIDD associated with pathogenic variants in BICRA.
CASE PRESENTATION
METHODS
The patient's phenotype include low birth weight, microcephaly, neurodevelopment delay, visual, gastrointestinal, urinary tract impairment, and craniofacial dysmorphism. Whole exome sequencing revealed a novel pathogenic heterozygous variant in exon 6 of BICRA gene c.535C > T (p.(Gln179*)). Sanger sequencing confirmed de novo origin.
CONCLUSION
CONCLUSIONS
The clinical findings confirm and supplement the previous study which showed that pathogenic variant in BICRA is commonly characterized by neurodevelopmental, gastrointestinal, and ophthalmologic symptoms, growth retardation, as well as craniofacial dysmorphism.
Identifiants
pubmed: 36437209
pii: S0387-7604(22)00192-9
doi: 10.1016/j.braindev.2022.11.003
pii:
doi:
Substances chimiques
DNA-Binding Proteins
0
Transcription Factors
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
185-190Informations de copyright
Copyright © 2022 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.