Beckwith-Wiedemann syndrome with asymmetrical mosaic of paternal disomy causing hemihyperplasia

Publication date: Available online 22 August 2018

Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Author(s): Tomohiro Yamada, Goro Sugiyama, Ken Higashimoto, Azusa Nakashima, HiroyukiNakano, Tomoki Sumida, Hidenobu Soejima, Yoshihide Mori

Abstract

Beckwith-Wiedemann syndrome (BWS) is a congenital disorder with three main features of overgrowth in infancy, macroglossia, and abdominal wall defects.

Here, we report on a 5-month old girl with hemihyperplasia and macroglossia caused by paternal UPD asymmetric mosaic on chromosome 11p15.5. She could not retract her tongue into her mouth and the midline of the tongue was shifted to the left. A glossectomy was performed at the age of 1 year. A specimen of the tongue showed normal skeletal muscle, but the muscle fibers were closely spaced and there were fewer stroma components in the right side than in the left. With respect to pUPD of chromosome 11p15.5, microsatellite marker analysis of resected tongue tissue revealed a higher mosaic rate in the right side (average 48.3%) than in the left (average 16.9%). Methylation analysis of KvDMR1 and H19DMR revealed hypomethylation of KvDMR1 and hypermethylation of H19DMR in the right side of the tongue (hyperplastic side). In this case, the difference in mosaic rate of pUPD in the 11p15.5 region was suggested to influence the expression level of IGF2.

This result may be helpful for clinicians, especially for surgeons, when planning plastic surgery for hemihyperplasia.

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