"Search for new Genes Causing Albinism in Israeli Populations"

Principal Investigator: Irene Anteby, M.D., Director, Center for Pediatric Ophthalmology, Hadassah Medical Center, Jerusalem

ABSTRACT

Background: Albinism comprises a group of mostly autosomal rescessive syndromes, characterized by generalized hypopigmentation leading to visual impairment. Four genes causing oculocutaneous albinism have been identified: TYR, P, TYRRP1 and MATP.  In all published population studies, the detection rate of mutations causing albinism is about 70%-90%.

Hypothesis: Additional, yet unknown gene(s) cause different phenotypes of albinism in Israeli populations.

Aims: (1) To identify Israeli albino families in which the phenotype is not caused by the known genes. (2) To search for the causative genes and mutations.

Methods: We have identified a group of Israelis with albinism and no known mutation. The known genes causing albinism will be tested in large families within this group. When linkage is excluded, the family will be further evaluated with haplotype analysis or whole genome screening.

Expected Results: Linkage for the known genes causing albinism will be excluded, indicating the involvement of additional, yet unknown, gene(s) in albinism.

Learn more about Dr. Anteby: Dr._Anteby_Link.mht (305 KB)