A Case of Smith-Lemli-Opitz Syndrome in DHCR7 Mutation |
Jeong, Yu Ju
(Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Huh, Rimm (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Kwun, Younghee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Lee, Jieun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) |
1 | Tsukahara M, Fujisawa K, Yamamoto K, Hasui M, Saito C, Yamamaka T, et al. Smith-Lemli-Opitz syndrome in Japan. Am J Med Genet 1998;75:118-9. DOI ScienceOn |
2 | Kelley RI. RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. Am J Hum Genet 1998;63:322-6. DOI ScienceOn |
3 | Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, et al. A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. J Korean Med Sci 2010;25:159-62. DOI ScienceOn |
4 | Jong Hee C, Ki Joong K, Yong Seung H, Ki CS, Kim JW. Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. J Child Neurol 2007;22:1297-300. DOI ScienceOn |
5 | Lee HJ. The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremly irritable child responsive to cholesterol supplementation Genes & Genomics 2010;32:9-12. DOI ScienceOn |
6 | Park MR, Ko JM, Cheon CK, Kim GH, Yoo HW. A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene. Korean J Pediatr 2008;51:1236-40. DOI ScienceOn |
7 | Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994;330:107-13. DOI ScienceOn |
8 | Nowaczyk MJ, Irons MB. Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet 2012;160C:250-62. DOI ScienceOn |
9 | Waterham HR, Hennekam RC. Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet 2012;160C:263-84. DOI ScienceOn |
10 | Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, et al. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci U S A 1998;95:8181-6. DOI ScienceOn |
11 | Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD. Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. Am J Med Genet C Semin Med Genet 2012;160C:285-94. DOI ScienceOn |
12 | Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 1997;68:305-10. DOI ScienceOn |
13 | Haas D, Garbade SF, Vohwinkel C, Muschol N, Trefz FK, Penzien JM, et al. Effects of cholesterol and simvastatin treatment in patients with Smith- Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis 2007;30:375-87. DOI |
14 | Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet 2000;37:321-35. DOI |
15 | Jira PE, Wevers RA, de Jong J, Rubio-Gozalbo E, Janssen-Zijlstra FS, van Heyst AF, et al. Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Res 2000;41:1339-46. |
16 | Haas D, Haege G, Hoffmann GF, Burgard P. Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet A 2013;161A:1008-11. |
17 | Johnson VP. Smith-Lemli-Opitz syndrome: review and report of two affected siblings. Z Kinderheilkd 1975;119:221-34. DOI |