Preising, Markus N. and Forster, Hedwig and Tan, H. and Lorenz, Birgit and de Jong, Paulus T. V. M. and Plomp, Astrid S. (2007) Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. MOLECULAR VISION, 13 (204-08). pp. 1851-1855. ISSN 1090-0535,
Full text not available from this repository. (Request a copy)Abstract
Purpose: To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported. Methods: Three affected family members were screened for mutations in tyrosinase (TYR) and the pink-eye-dilution gene (P) by using SSCP. The melanocortin receptor gene (MC1R) and amplimers of P showing an aberrant banding pattern in SSCP were analyzed by direct sequencing. All participants underwent ophthalmologic examination including funduscopy, and visually evoked potentials were recorded in two cases. Results: The pedigree had three branches A, B, and C. We identified three mutations in P (V443I, N476S, C793F) that cause a compound heterozygous situation in cases from branch A (N476S/C793F) and B (V443I/C793F), who showed oculocutaneous albinism. Hair and skin color followed the light Nordic complexion that was also present in other affected and unaffected members of this family. Descendants of branches A and B showed light complexion with iris translucency and peripheral fundus hypopigmentation independent from the genotype identified. A single descendant had red hair, carrying a well known compound MC1R mutation combination for red hair color and a single heterozygous P mutation. Conclusions: P mutations underlie oculocutaneous albinism in this family. Two known mutations in MC1R caused red hair color in one family member. No modifier effect of MC1R on P mutations could be deduced from the results of this study.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HUMAN MELANOCORTIN-1 RECEPTOR; VISUAL-EVOKED POTENTIALS; RED HAIR; HUMAN PIGMENTATION; GENE; MC1R; OCA2; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 02 Dec 2020 09:23 |
| Last Modified: | 02 Dec 2020 09:23 |
| URI: | https://pred.uni-regensburg.de/id/eprint/32084 |
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