TY - JOUR
T1 - Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4
AU - Verhagen, Judith M. A.
AU - Huijmans, Jan G.
AU - Williams, Monique
AU - van Ruyven, Rutger L. J.
AU - Bergen, Arthur A. B.
AU - Wouters, Cokkie H.
AU - Brooks, Alice S.
PY - 2012
Y1 - 2012
N2 - Genome-wide studies may lead to the discovery of genetic variants of potential clinical importance beyond the aims of the study. We performed single nucleotide polymorphism array analysis in a boy with oculocutaneous albinism to identify copy-neutral regions of homozygosity harboring genes involved in melanin biosynthesis. An unanticipated homozygous deletion of chromosome 5p13.3 was discovered, encompassing not only the OCA gene SLC45A2, but also four additional genes. This led to an unexpected presymptomatic diagnosis of alpha-methylacyl-CoA racemase deficiency in the same patient. (c) 2012 Wiley Periodicals, Inc
AB - Genome-wide studies may lead to the discovery of genetic variants of potential clinical importance beyond the aims of the study. We performed single nucleotide polymorphism array analysis in a boy with oculocutaneous albinism to identify copy-neutral regions of homozygosity harboring genes involved in melanin biosynthesis. An unanticipated homozygous deletion of chromosome 5p13.3 was discovered, encompassing not only the OCA gene SLC45A2, but also four additional genes. This led to an unexpected presymptomatic diagnosis of alpha-methylacyl-CoA racemase deficiency in the same patient. (c) 2012 Wiley Periodicals, Inc
U2 - https://doi.org/10.1002/ajmg.a.35611
DO - https://doi.org/10.1002/ajmg.a.35611
M3 - Article
C2 - 22987308
SN - 1552-4825
VL - 158A
SP - 2931
EP - 2934
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 11
ER -