The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremely irritable child responsive to cholesterol supplementation

• Published in: Genes & genomics Vol. 32; no. 1; pp. 9 - 12
• Main Authors: Lee, H.J., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, Lee, J.H., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, Lee, J.S., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, Choe, Y.H., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
• Format: Journal Article
• Language: English
• Published: Heidelberg The Genetics Society of Korea 01.02.2010; 한국유전학회
• Subjects: Animal Genetics and Genomics; behavior disorders; Biomedical and Life Sciences; biosynthesis; central nervous system; children; CHOLESTEROL; Cholesterol therapy; COLESTEROL; DHCR7; eggs; genomics; girls; Human Genetics; Life Sciences; Microbial Genetics and Genomics; mutation; Mutation analysis; palate; patients; Plant Genetics and Genomics; Short Communication; sleep; Smith-Lemli-Opitz syndrome; 생물학; Cholesterol therapy; Smith-Lemli-Opitz syndrome; Mutation analysis
• ISSN: 1976-9571; 2092-9293
• DOI: 10.1007/s13258-010-0687-0

Smith-Lemli-Opitz syndrome(SLOS) is a hereditary disorder of cholesterol biosynthesis. It is characterized by growth deficiency, mental retardation and multiple congenital anomalies, including a typical facial appearance, cleft palate, syndactyly, and a variety of central nervous system and/or major congenital malformations. There are very few reports of the Smith-Lemli-Opitz syndrome in Korean children. Here, we report on a girl with a G303R/R352W mutation. The patient was extremely irritable; assessment of the severity of the irritability included severity scoring and the amount of sleep. Cholesterol supplementation was started with egg yolks, and the irritability improved.