Journal List > Korean J Perinatol > v.24(3) > 1013682

Ahn, Kim, Lee, and Kim: Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant

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.

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Fig. 1
Gross appearance of the patient: white scalp hair and depigmented skin of whole body.
kjp-24-195f1.tif
Fig. 2
Direct sequencing analysis. Heterozygous c.230G>A (CGG>CAG, p.Arg77Gln) (arrow) in exon 1 of theTYR gene.
kjp-24-195f2.tif
Fig. 3
The sequencing analysis of the TYR gene shows an insertion of a C at position 929/930 in exon 2 (c.929dupC) (arrow). Upper sequences is normal control, and the bottom is the patient's sequences with inserted mutation.
kjp-24-195f3.tif
Fig. 4
PCR-SSCP analysis of exon 1 of the TYR gene shows aberrant band shifts (arrow) at father and patient (A). In exon 2, mother and patient have aberrant shifts (arrow) (B). Abbreviation: N, normal control; F, father; M, mother; P, patient.
kjp-24-195f4.tif
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