Abstract:
Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such as decreased visual acuity and nystagmus. Albinos are also more likely to experience skin damage and cancer due to their lack of protective melanin. Melanin acts as a natural sunscreen, protecting the skin from UV radiation that can damage DNA can promote skin cancer development. Therefore, individuals with albinism should take extra precautions when exposed to sunlight, such as wearing protective clothing and using sunscreen. Albinism is a relatively rare condition, affecting approximately 1 in 17,000 people worldwide. Albinism is a medical condition for which no cure is currently available. However, there are treatments that can be used to manage the symptoms of the condition and enhance the quality of life of affected individuals. For current research study afamily segregating oculocutaneous albinism was selected. Blood samples were collected from the parents, normal, and affected individuals. After extraction of DNA from the blood samples, Whole Exome Sequencing was done. The Whole Exome Sequencing (WES) analysis revealed the presence of a missense variant c.1211C>T; p.Thr404Met in the family. The verification of variant inheritance patterns was accomplished using Sanger sequencing, confirming its presence in all members of the families. To determine the potential disease-causing effects of the identified variant, In-Silico tools were employed. The results obtained from the bioinformatics tools used concurred with the segregation analysis, supporting the pathogenic nature of the variant. Additionally, the variant was observed to segregate across the entire family, further bolstering the evidence for its pathogenic role.
Page(s):
330-330
DOI:
DOI not available
Published:
Journal: Abstract Book on International Conference on Food and Applied Sciences (ICFAS-23) 3-5 August 23, Volume: 0, Issue: 0, Year: 2023
Keywords:
Melanin
,
Albinism
,
WES
,
Missense variant
,
Sanger Sequencing