Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
- PMID: 25691420
- DOI: 10.1002/ajmg.a.36944
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Abstract
A pair of sisters was ascertained for multiple congenital defects, including marked craniofacial dysmorphisms with blepharophimosis, and severe psychomotor delay. Two novel compound heterozygous mutations in UBE3B were identified in both the sisters by exome sequencing. These mutations include c.1A>G, which predicts p.Met1?, and a c.1773delC variant, predicted to cause a frameshift at p.Phe591fs. UBE3B encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. We report on the thorough clinical examination of the patients and review the state of art knowledge of this disorder.
Keywords: Kaufman oculocerebrofacial syndrome; UBE3B; congenital defects; craniofacial dysmorphisms; developmental delay; ubiquitination; whole exome sequencing.
© 2015 Wiley Periodicals, Inc.
Similar articles
-
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Hum Genet. 2014 Jul;133(7):939-49. doi: 10.1007/s00439-014-1436-2. Epub 2014 Mar 11. Hum Genet. 2014. PMID: 24615390
-
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.Am J Med Genet A. 2018 Jan;176(1):187-193. doi: 10.1002/ajmg.a.38538. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29160006
-
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.Clin Dysmorphol. 2019 Oct;28(4):175-183. doi: 10.1097/MCD.0000000000000282. Clin Dysmorphol. 2019. PMID: 31162149 Review.
-
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.J Med Genet. 2013 Aug;50(8):493-9. doi: 10.1136/jmedgenet-2012-101405. Epub 2013 May 17. J Med Genet. 2013. PMID: 23687348 Free PMC article.
-
BRAT1 mutations present with a spectrum of clinical severity.Am J Med Genet A. 2016 Sep;170(9):2265-73. doi: 10.1002/ajmg.a.37783. Epub 2016 Jun 9. Am J Med Genet A. 2016. PMID: 27282546 Free PMC article. Review.
Cited by
-
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3662-3667. doi: 10.1073/pnas.1818751116. Epub 2019 Feb 11. Proc Natl Acad Sci U S A. 2019. PMID: 30808755 Free PMC article.
-
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.Mol Psychiatry. 2021 Jun;26(6):1980-1995. doi: 10.1038/s41380-020-0714-8. Epub 2020 Apr 6. Mol Psychiatry. 2021. PMID: 32249816
-
Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report.Clin Med Insights Pediatr. 2023 Sep 21;17:11795565231200130. doi: 10.1177/11795565231200130. eCollection 2023. Clin Med Insights Pediatr. 2023. PMID: 37745637 Free PMC article.
-
HECT E3 ubiquitin ligases - emerging insights into their biological roles and disease relevance.J Cell Sci. 2020 Apr 7;133(7):jcs228072. doi: 10.1242/jcs.228072. J Cell Sci. 2020. PMID: 32265230 Free PMC article. Review.
-
FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.Bioinformatics. 2016 May 15;32(10):1592-4. doi: 10.1093/bioinformatics/btw046. Epub 2016 Jan 27. Bioinformatics. 2016. PMID: 26819469 Free PMC article.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Medical
