AlBandary Albakheet, Duaa Almuallami, Rawan Almass, Alya Qari, Rosan Kenana, Hanan AlQudairy, Rozeena Huma, Hadeel Binomar, Salma Majid Wakil, Mohammad Alowain, Dilek Colak, Namik Kaya, Moeenaldeen D AlSayed
Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. Our analysis yielded three different novel variants in UBE3B: a missense substitution [NM_130466.4: c.2975C>T; (p.Pro992Leu)] in the HECT domain in family 1, a 3-bp deletion within exon 14 [c...
February 16, 2024: Clinical Dysmorphology