Korean J Perinatol.  2013 Sep;24(3):195-198. 10.14734/kjp.2013.24.3.195.

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

• Ahn YJ
• Kim CS
• Lee SL
• Kim DK

• KMID: 2280944
• DOI: http://doi.org/10.14734/kjp.2013.24.3.195

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.

Keyword

Oculocutaneous albinism; TYR; Mutation; OCA 1

MeSH Terms

Albinism, Oculocutaneous*
Hair
Humans
Infant, Newborn*
Melanins
Parents
Scalp
Skin
Melanins

Figure

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  Fig. 1 Gross appearance of the patient: white scalp hair and depigmented skin of whole body.

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  Fig. 2 Direct sequencing analysis. Heterozygous c.230G>A (CGG>CAG, p.Arg77Gln) (arrow) in exon 1 of theTYR gene.

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  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.

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  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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