Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is a rare clinical presentation and appropriate diagnosis of ID is challenging through clinical examination. We report an Indian family with a rare...

Topics

• Albinism, Oculocutaneous
• Child
• DNA Copy Number Variations
• Exons
• Female
• Homozygote
• Humans
• Intellectual Disability
• Male
• Monophenol Monooxygenase