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Cited by 12melanin and skin pigmentationGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus

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Loftus, Stacie K., Lundh, Linnea, Watkins‐Chow, Dawn E., Baxter, Laura L., Pairo‐Castineira, Erola, NISC Comparative Sequencing Program, Jackson, Ian J., Oetting, William S. +2 more·2021·Human Mutation
DOI 10.1002/humu.24257PMC PMC8435020
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Abstract

Oculocutaneous albinism (OCA) is a heritable disorder of pigment production that manifests as hypopigmentation and altered eye development. Exon sequencing of known OCA genes is unsuccessful in producing a complete molecular diagnosis for a significant number of affected individuals. We sequenced the DNA of individuals with OCA using short-read custom capture sequencing that targeted coding, intronic, and noncoding regulatory regions of known OCA genes, and genome-wide association study-associated pigmentation loci. We identified an OCA2 complex structural variant (CxSV), defined by a 143 kb inverted segment reintroduced in intron 1, upstream of the native location. The corresponding CxSV junctions were observed in 11/390 probands screened. The 143 kb CxSV presents in one family as a copy number variant duplication for the 143 kb region. In the remaining 10/11 families, the 143 kb CxSV acquired an additional 184 kb deletion across the same region, restoring exons 3-19 of OCA2 to a copy-number neutral state. Allele-associated haplotype analysis found rare SNVs rs374519281 and rs139696407 are linked with the 143 kb CxSV in both OCA2 alleles. For individuals in which customary molecular evaluation does not reveal a biallelic OCA diagnosis, we recommend preliminary screening for these haplotype-associated rare variants, followed by junction-specific validation for the OCA2 143 kb CxSV.

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Authors
Loftus, S. K., Lundh, L., Watkins‐Chow, D. E., Baxter, L. L., Pairo‐Castineira, E., Program, N. C. S., Jackson, I. J., Oetting, W. S., Pavan, W. J., & Adams, D. R.
Affiliations
  • National Institutes of Health (US)
  • Roslin Institute (GB)
  • University of Minnesota (US)
Corresponding author
Loftus, Stacie K.
ORCID
Venue
Human Mutation
Publisher
Wiley
Published
2021-08
Volume
42
Issue
10
Pages
1239-1253
ISSN
  • 1059-7794 (ISSN-L)
  • 1098-1004
DOI
10.1002/humu.24257
PMC
PMC8435020
OpenAlex
W3180054692
Cited by
12
References
8
Citations by year
2026: 1 · 2025: 2 · 2024: 4 · 2023: 5
FWCI
1.17
Type
journal article
Language
en
Open access
Licence
Locations
  • Human Mutation (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, cc-by)
Funders
National Human Genome Research Institute (1ZIAHG000136‐21, 1ZIAHG000215‐18)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
oculocutaneous albinism, OCA2, copy number variation, haplotype analysis, molecular diagnosis, hypopigmentation
MeSH terms
Alleles, Humans, Mutation, Albinism, Oculocutaneous, Membrane Transport Proteins, Genome-Wide Association Study

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