Amb motiu del tancament d'estiu, la validació de documents es reprendrà a partir del 28 d'agost de 2026. Disculpeu les molèsties.
Con motivo del cierre de verano, la validación de documentos se reanudará a partir del 28 de agosto de 2026. Disculpad las molestias
Due to the summer closure, document validation will resume starting August 28, 2026. We apologize for any inconvenience.

Files

692482.pdf (155.4 KB)

Document type

Article

Version

Accepted version

Publication date

2020-01

All rights reserved

Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/195119

Extending the phenotypic spectrum of Bohring-Opitz syndrome: mild case confirmed by functional studies

Journal Title

Authors

Director/Tutor

Journal ISSN

Volume Title

Related resource

https://doi.org/10.1002/ajmg.a.61397

Abstract

Bohring-Opitz syndrome (BOS) has been described as a clinically recognizable genetic syndrome since 1999. Clinical diagnostic criteria were established in 2011 and include microcephaly, trigonocephaly, distinctive craniofacial dysmorphic features, facial nevus flammeus, failure to thrive, and severe developmental delays. The same year, different de novo heterozygous nonsense mutations in the ASXL1 were found in affected individuals. Since then, several cases have been reported confirming the association between this chromatin remodeling gene and BOS. Most affected individuals die in early childhood because of unexplained bradycardia, obstructive apnea, or pulmonary infections. Those that survive usually cannot walk independently and are nonverbal. Some have had success using walkers and braces in late childhood. While few are able to speak, many have been able to express basic needs using communication devices as well as gestures with associated basic vocalizations. In this article, we present a mild case of BOS with a de novo pathogenic mutation c.1720-2A>G (p.I574VfsX22) in ASXL1 detected on whole-exome sequencing and confirmed by functional analysis of the messenger RNA splicing pattern on the patient's fibroblasts. She has typical dysmorphic features and is able to run and walk independently as well as to communicate with basic sign language.

Subject

Malalties hereditàries, Mutació (Biologia), Mortalitat infantil

Subject (English)

Genetic diseases, Mutation (Biology), Infant mortality

Citation

Collections

Articles publicats en revistes (Genètica, Microbiologia i Estadística)

Citation

LEON, Eyby, et al. Extending the phenotypic spectrum of Bohring-Opitz syndrome: mild case confirmed by functional studies. American Journal of Medical Genetics Part A. 2020. Vol. 182, num. 1, pags. 201-204. ISSN 1552-4825. [consulted: 13 of August of 2026]. Available at: https://hdl.handle.net/2445/195119

Export metadata

JSON - METS

Share record