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

Tomohiro Yamada, Goro Sugiyama, Ken Higashimoto, Azusa Nakashima, Hiroyuki Nakano, Tomoki Sumida, Hidenobu Soejima, Yoshihide Mori

Research output: Contribution to journalArticle

Abstract

Beckwith-Wiedemann syndrome (BWS) is a congenital disorder with 3 main features—overgrowth in infancy, macroglossia, and abdominal wall defects. Here, we report on a 5-month old girl with hemihyperplasia and macroglossia caused by paternal uniparental disomy (pUPD) 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. Glossectomy was performed at age 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 tissue from the right side of the tongue than that from the left side. With respect to pUPD of chromosome 11p15.5, microsatellite marker analysis of the tongue tissue specimen revealed a higher mosaic rate in the tissue from the right side of the tongue (average 48.3%) than that from the left side (average 16.9%). Methylation analysis of Kv differentially methylated region (DMR) 1 (KvDMR1) and H19DMR revealed hypomethylation of KvDMR1 and hypermethylation of H19DMR in the tissue on the right side of the tongue (hyperplastic side). In this case, the difference in mosaic rate of pUPD in the 11p15.5 region was hypothesized to influence the expression level of insulin-like growth factor 2. This result may be helpful to clinicians, especially surgeons, when planning plastic surgery for hemihyperplasia.

Original languageEnglish
Pages (from-to)e84-e88
JournalOral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Volume127
Issue number3
DOIs
Publication statusPublished - Mar 1 2019

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Beckwith-Wiedemann Syndrome
Tongue
Uniparental Disomy
Macroglossia
Glossectomy
Chromosomes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Abdominal Wall
Somatomedins
Plastic Surgery
Isolated Hemihyperplasia
Microsatellite Repeats
Methylation
Mouth
Skeletal Muscle
Muscles

All Science Journal Classification (ASJC) codes

  • Surgery
  • Oral Surgery
  • Pathology and Forensic Medicine
  • Dentistry (miscellaneous)
  • Radiology Nuclear Medicine and imaging

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Beckwith-Wiedemann syndrome with asymmetric mosaic of paternal disomy causing hemihyperplasia. / Yamada, Tomohiro; Sugiyama, Goro; Higashimoto, Ken; Nakashima, Azusa; Nakano, Hiroyuki; Sumida, Tomoki; Soejima, Hidenobu; Mori, Yoshihide.

In: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Vol. 127, No. 3, 01.03.2019, p. e84-e88.

Research output: Contribution to journalArticle

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