Waardenburg syndrome type IV De Novo SOX10 variant causing chronic intestinal Pseudo-Obstruction

Anthony R. Hogan, Krishnamurti A. Rao, Willa L. Thorson, Holly L. Neville, Juan E. Sola, Eduardo A. Perez

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.

Original languageEnglish (US)
Pages (from-to)487-492
Number of pages6
JournalPediatric Gastroenterology, Hepatology and Nutrition
Volume22
Issue number5
DOIs
StatePublished - 2019

Keywords

  • Hirschsprung disease
  • Intestinal pseudo obstruction
  • Meconium ileus
  • SOX10
  • Volvulus of midgut
  • Waardenburg syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hepatology
  • Gastroenterology

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