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Further phenotypic characterization of Kaufman oculocerebrofacial syndrome

report of five new cases and literature review

Galarreta, Carolina I.a; Wigby, Kristen M.a,,b; Jones, Marilyn C.a

doi: 10.1097/MCD.0000000000000282
Original Articles

Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman oculocerebrofacial syndrome is characterized by a recognizable pattern of malformations including moderate to severe intellectual disability, growth deficiency, microcephaly and a distinctive facial gestalt. Common craniofacial features include short upslanting palpebral fissures, blepharophimosis or ptosis, ear anomalies, hearing loss, palate anomalies and stridor/laryngomalacia. The aim of this study was to describe the phenotypic features and the genotype of five new individuals from three unrelated families, and to review systematically the published information of 26 cases. The main features are summarized contributing to further characterize the natural history of the disease. Novel phenotypic features and two novel pathogenic variants in UBE3B are reported: A splice site variant (c.2569-1G > C) and a nonsense variant (c.518C > A, p.Ser173Ter). Kaufman oculocerebrofacial syndrome is likely an underdiagnosed disorder which can be clinically recognized based on its distinctive facial gestalt and relatively homogenous natural history.

aDepartment of Pediatrics, Division of Genetics and Dysmorphology, UC San Diego/Rady Children’s Hospital

bDivision of Genetics, Rady Children’s Institute for Genomic Medicine, San Diego, California, USA

Received 15 October 2018 Accepted 7 May 2019

Correspondence to Marilyn C. Jones, MD, 3020 Children’s Way MC 5031, San Diego, CA 92123, USA, Tel: 858-966-5840; fax: 858-966-8550; e-mail:

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