Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Journal article

Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known about its paralog UBE3B. By using exome and capillary sequencing, we here identify biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis-ptosis-intellectual-disability syndrome c...

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Authors: Basel-Vanagaite, L; Dallapiccola, B; Ramirez-Solis, R; Segref, A; Thiele, H

• Publication status: Published
• Journal: American journal of human genetics
• Volume: 91
• Issue: 6
• Pages: 998-1010
• Publication date: 2012-12-01
• DOI: 10.1016/j.ajhg.2012.10.011
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Child, Preschool; Mutation; Exome; Blepharophimosis; Humans; Blepharoptosis; Mice; Facies; Alleles; Mice, Knockout; Female; Central Nervous System; Genotype; Magnetic Resonance Imaging; Intellectual Disability; Child; Infant; Oxidative Stress; Amino Acid Sequence; Ubiquitin-Protein Ligases; Animals; Brain; Syndrome; Male; Base Sequence; Caenorhabditis elegans