Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
ASXL1
Bohring-Opitz syndrome
functional studies
mild
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:
01 2020
01 2020
Historique:
received:
06
05
2019
revised:
02
10
2019
accepted:
09
10
2019
pubmed:
7
11
2019
medline:
29
12
2020
entrez:
7
11
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31692235
doi: 10.1002/ajmg.a.61397
doi:
Substances chimiques
ASXL1 protein, human
0
Codon, Nonsense
0
Repressor Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
201-204Subventions
Organisme : Catalan Government
ID : 2014SGR932
Pays : International
Organisme : CIBERER
ID : U720
Pays : International
Organisme : Ministerio de Economia y Competitividad de Espana
ID : SAF2016-75948-R
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.
Références
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