Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the $SALL1$ gene

  • Choi, Won-Ik (Department of Pediatrics, Hanyang University School of Medicine) ;
  • Kim, Ji-Hye (Department of Pediatrics, Hanyang University School of Medicine) ;
  • Yoo, Han-Wook (Medical Genetic Clinics and Laboratory, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Oh, Sung-Hee (Department of Pediatrics, Hanyang University School of Medicine)
  • 투고 : 2010.04.15
  • 심사 : 2010.10.10
  • 발행 : 2010.12.15
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초록

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the $SALL1$ gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel $SALL1$ gene mutation.

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참고문헌

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피인용 문헌

  1. Implications for genotype–phenotype predictions in Townes–Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature vol.a158, pp.3, 2010, https://doi.org/10.1002/ajmg.a.34426
  2. Endocrine abnormalities in townes–brocks syndrome vol.161, pp.9, 2010, https://doi.org/10.1002/ajmg.a.36104
  3. Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation vol.12, pp.1, 2015, https://doi.org/10.5734/jgm.2015.12.1.44
  4. Molecular Basis of Developmental Anomalies of the Human Gastrointestinal Tract vol.4, pp.1, 2010, https://doi.org/10.4199/c00139ed1v01y201509gmm006
  5. Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature vol.185, pp.3, 2021, https://doi.org/10.1002/ajmg.a.62050