IDENTIFICATION OF A NOVEL HOMOZYGOUS DELETION OF THE TYROSINASE GENE IN A TURKISH FAMILY WITH OCULOCUTANEOUS ALBINISM TYPE 1.
Oculocutaneous albinism (OCA) is a group of genetically heterogeneous autosomal recessively inherited disorders characterized by decreased or absent pigmentation in the hair, skin, and eyes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR).
Our patient is a 2-month-old boy born at term by normal delivery with normal physical parameters. His parents were consanguineous (second cousin). In his physical examination, length was 55 cm (10-25P), weight 5 kg (10-25 P), and head circumference 37 cm (3P). He had milky white skin, white hair, white eyelashes and eyebrows, decreased pigment in the iris and nystagmus. His audiologic examination was normal.
TYR gene sequence analysis using Sanger sequencing method was used.
We found a novel homozygous c.1037-13_1038delTTTTAATGAACAGGA (p.G346Vfs*3) mutation in intron 2 and exon 3 in TYR gene. Her parents are heterozygous state for the same mutation.
This frameshift mutation resulting in a truncated protein is also likely to disturb normal splicing and exon skipping. We reported our patient to contribute to genotype-phenotype correlations in OCA.
Bilgen Bilge Geckinli, Kenan Delil, Mehmet Ali Soylemez, Esra Arslan Ates, Ayberk Turkyilmaz, Melike Avsar, Ahmet Arman
Department of Medical Genetics, Marmara University Faculty of Medicine, Istanbul, Turkey
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|Title Annotation:||Poster Presentation Abstracts|
|Author:||Geckinli, Bilgen Bilge; Delil, Kenan; Soylemez, Mehmet Ali; Ates, Esra Arslan; Turkyilmaz, Ayberk; A|
|Publication:||Erciyes Medical Journal|
|Article Type:||Brief article|
|Date:||Jun 1, 2017|
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