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High‐resolution array‐ CGH in patients with oculocutaneous albinism identifies new deletions of the TYR , OCA 2 , and SLC 45A2 genes and a complex rearrangement of the OCA 2 gene
Author(s) -
MoricePicard Fanny,
Lasseaux Eulalie,
Cailley Dorothée,
Gros Audrey,
Toutain Jérome,
Plaisant Claudio,
Simon Delphine,
François Stéphane,
GilbertDussardier Brigitte,
Kaplan Josseline,
Rooryck Caroline,
Lacombe Didier,
Arveiler Benoit
Publication year - 2014
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12173
Subject(s) - oculocutaneous albinism , genetics , biology , gene , intron , exon , point mutation , genome , mutation
Summary Oculocutaneous albinism ( OCA ) is caused by mutations in six different genes, and their molecular diagnosis encompasses the search for point mutations and intragenic rearrangements. Here, we used high‐resolution array‐comparative genome hybridization (CGH) to search for rearrangements across exons, introns and regulatory sequences of four OCA genes: TYR , OCA 2 , TYRP 1 , and SLC 45A2 . We identified a total of ten new deletions in TYR , OCA 2 , and SLC 45A2 . A complex rearrangement of OCA 2 was found in two unrelated patients. Whole‐genome sequencing showed deletion of a 184‐kb fragment (identical to a deletion previously found in Polish patients), whereby a large portion of the deleted sequence was re‐inserted after severe reshuffling into intron 1 of OCA 2 . The high‐resolution array‐ CGH presented here is a powerful tool to detect gene rearrangements. Finally, we review all known deletions of the OCA 1–4 genes reported so far in the literature and show that deletions or duplications account for 5.6% of all mutations identified in the OCA 1–4 genes.