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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제22권 제5호
- 발행연도
- 2019.1
- 수록면
- 487 - 492 (6page)
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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.
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참고문헌 (13)
참고문헌 신청
Jalilian N / 2017 / SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family : a clue for phenotypedirected genetic analysis / Int J Pediatr Otorhinolaryngol 96:122~126
Bondurand N / 2007 / Deletions at the SOX10gene locus cause Waardenburg syndrome types 2 and 4 / Am J Hum Genet 81:1169~1185
Waardenburg PJ / 1951 / A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness / Am J Hum Genet 3:195~253
Pingault V / 2002 / SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism / Hum Genet 111:198~206
Chaoui A / 2011 / Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome / Hum Mutat 32:1436~1449
Bondurand N / 2007 / Deletions at the SOX10gene locus cause Waardenburg syndrome types 2 and 4 / Am J Hum Genet 81:1169~1185
Waardenburg PJ / 1951 / A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness / Am J Hum Genet 3:195~253
Pingault V / 2002 / SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism / Hum Genet 111:198~206
Chaoui A / 2011 / Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome / Hum Mutat 32:1436~1449
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