Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease
Open accessAbstract
Gestational vitamin A (retinol) deficiency poses a risk for ocular birth defects and blindness. We identified missense mutations in RBP4, encoding serum retinol binding protein, in three families with eye malformations of differing severity, including bilateral anophthalmia. The mutant phenotypes exhibit dominant inheritance, but incomplete penetrance. Maternal transmission significantly increases the probability of phenotypic expression. RBP normally delivers retinol from hepatic stores to peripheral tissues, including the placenta and fetal eye. The disease mutations greatly reduce retinol binding to RBP, yet paradoxically increase the affinity of RBP for its cell surface receptor, STRA6. By occupying STRA6 nonproductively, the dominant-negative proteins disrupt vitamin A delivery from wild-type proteins within the fetus, but also, in the case of maternal transmission, at the placenta. These findings establish a previously uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA, and define a group of hereditary disorders plausibly modulated by dietary vitamin A.
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Pathogenic variants in RBP4 lead to reduced plasma RBP4 and all-trans-retinol concentrations and are associated with night blindness, microphthalmia, anophthalmia, coloboma, retinal dystrophy, and acne vulgaris.
“Pathogenic variants in RBP4 gene lead to reduced plasma RBP4 and all-trans-retinol concentrations and are associated with night blindness [34,169,170,171], microphthalmia [171,172], anophthalmia [172], coloboma [34,170,172], retinal dystrophy [34,169,170,171,173] and acne vulgaris [34,170,173].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [172]
The Results (page unavailable) link RBP4 variants to microphthalmia, anophthalmia and coloboma, and report reduced fasting serum vitamin A in three carriers. But they say plasma RBP was within the normal range in carriers of the variants studied; reduced RBP is reported for other RBP4 variants. The Discussion (page unavailable) also reports night blindness and retinal dystrophy with total RBP4 loss, while the paper does not establish an association with acne vulgaris. (LLM, conf=0.88)
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- Authors
- Chou, C. M., Nelson, C., Tarlé, S. A., Pribila, J. T., Bardakjian, T., Woods, S., Schneider, A., & Glaser, T.
- Affiliations
- University of Michigan (US)
- Jefferson Einstein Philadelphia Hospital (US)
- University of California, Davis (US)
- Corresponding author
- Glaser, Tom
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2015-04
- Volume
- 161
- Issue
- 3
- Pages
- 634-646
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC4409664
- OpenAlex
- W1973565169
- Cited by
- 76
- References
- 98
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 9 · 2023: 4 · 2022: 10 · 2021: 6 · 2020: 11 · 2019: 13 · 2018: 2 · 2017: 5 · 2016: 7 · 2015: 2
- FWCI
- 2.31
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Eye Institute (EY19497, R01EY019497)
- National Institute of General Medical Sciences (GM-07544, T32GM007863, T32GM007544)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-07505, T32HD007505)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Ocular Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- retinol-binding protein 4, retinol-binding protein, congenital eye disease, anophthalmia, dominant inheritance, incomplete penetrance, maternal inheritance, STRA6, retinol transport, vitamin A deficiency, missense mutations, placenta, dietary vitamin A
- MeSH terms
- Amino Acid Sequence, Animals, DNA Mutational Analysis, Female, Genes, Dominant, Humans, Male, Maternal-Fetal Exchange, Molecular Sequence Data, Pedigree, Pregnancy, Vitamin A Deficiency, Eye Diseases, Hereditary, Sequence Alignment, Penetrance, Mutation, Missense, Retinol-Binding Proteins, Plasma
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