Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

Abstract

Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a novel mutation, and to the best of the authors' knowledge, this is the first report of a clinically and genetically confirmed case of Smith-Lemli-Opitz syndrome in Korea.

Keywords

Smith-Lemli-Opitz syndrome DHCR 7 gene

Get full access to this article

View all access options for this article.

References

Smith DW , Lemli L. , Opitz JA A newly recognized syndrome of multiple congenital anomalies. J Pediatr. 1964;64:210-217.

Opitz JM RSH (so-called Smith-Lemli-Opitz) syndrome. Curr Opin Pediatr . 1999;11:353-362.

Tsukahara M. , Fujisawa K. , Yamamoto K. , et al. Smith-Lemli-Opitz syndrome in Japan. Am J Med Genet. 1998;75:118-119.

Cunniff C. , Kratz LE , Moser A. , et al. Clinical and biochemical spectrum of patients with RSH/Smith Lemli Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet. 1997; 68:263-269.

Verna IC , Ghai OP Smith-Lemli-Opitz syndrome in an Indian child. Indian J Pediatr. 1971;8:221-222.

Tomaraei SN , Sarkar B. , Bansali A. , Marwaha RK Smith-Lemli-Opitz syndrome. Indian J Pediatr. 1993;60:143-145.

Correa Cerro LS , Porter FD 3β-hydroxysterol Δ7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2005; 84:112-126.

Irons M. , Elias ER , Salen G. , et al. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome . Lancet. 1993;341:1414.

Tint GS , Irons M. , Elias ER , et al. Defective cholesterol biosynthesis associated with the Smith Lemli Opitz syndrome. N Engl J Med. 1994;330:107-113.

10.

Porter FD Human malformation syndrome due to inborn errors of cholesterol synthesis . Curr Opin Pediatr. 2003;15:607-613.

11.

Jira PE , Waterham HR , Wanders Rja , et al. Smith-Lemli-Opitz syndrome and the DHCR7 gene. Ann Hum Genet. 2003; 67:269-280.

12.

Nezarati MM , Loeffler J. , Yoon G. , et al. Novel mutation in the Δsterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome . Am J Med Genet. 2002;110:103-108.

13.

Matsumoto Y. , Morishima KI , Honda A. , et al. R352Q mutation of DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. J Hum Genet. 2005;50:353-356.

14.

Kelly RI , Hennekam RC The Smith-Lemli-Opitz syndrome. J Med Genet. 2000;37:321-335.

15.

Witsch-Baumgartner M. , Fitzky BU , Ogorelkova M. , et al. Mutational spectrum in the delta7-sterol reductase gene and genotye-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet. 2000;66:402-412.

16.

Jira PE , Wanders Rja , Smeitink Jam , et al. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. Ann Hum Genet. 2001;65:229-236.