Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant.
10.14734/kjp.2013.24.3.195
- Author:
Young Joon AHN
1
;
Chun Soo KIM
;
Sang Lak LEE
;
Dae Kwang KIM
Author Information
1. Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea. cskim@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Oculocutaneous albinism;
TYR;
Mutation;
OCA 1
- MeSH:
Albinism, Oculocutaneous*;
Hair;
Humans;
Infant, Newborn*;
Melanins;
Parents;
Scalp;
Skin
- From:Korean Journal of Perinatology
2013;24(3):195-198
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Oculocutaneous Albinism (OCA) is a heterogenous autosomal recessive disorder characterized by defective melanin biosynthesis. Physical findings including white scalp hair and depigmented skin of whole body in newborn infants are important clinical features of OCA 1. We report a newborn case of OCA 1 with two different TYR mutations, and gene defects of the baby revealed to be originated from both parents carriers of OCA.
