Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant

Young Joon Ahn; Chun Soo Kim; Sang Lak Lee; Dae Kwang Kim

doi:10.14734/kjp.2013.24.3.195

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

Case Report

Korean J Perinatol 2013;24(3):195-198.

Published online: 19 June 2013

DOI: https://doi.org/10.14734/kjp.2013.24.3.195

Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant

Young Joon Ahn, M.D.¹, Chun Soo Kim, M.D.^1,, Sang Lak Lee, M.D.¹, Dae Kwang Kim, M.D.²

¹Department of Pediatricsand Medical Genetics, Daegu, Korea

²Department of Keimyung University School of Medicine, Daegu, Korea

주관책임자 : 김천수, 700-712 대구시 중구 달성로 56 계명대학교 의과대학 소아청소년과학교실 전화 : 053)250-7526, 전송 : 053)250-7783 E-mail : cskim@dsmc.or.kr

Received 7 August 2013 Revised 11 September 2013 Accepted 17 September 2013

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Oculocutaneous albinism, TYR, Mutation, OCA 1

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Fig. 1

Gross appearance of the patient: white scalp hair and depigmented skin of whole body.

Fig. 2

Direct sequencing analysis. Heterozygous c.230G>A (CGG>CAG, p.Arg77Gln) (arrow) in exon 1 of theTYR gene.

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.

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.

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