Pedigree analysis of an unusual low penetrance retinoblastoma mutation resulting in multiple silent carriers and a discordant effect on monozygotic twins

John J. McDermott; Ramitha R. Nyalakonda; Amy C. Schefler

doi:10.1016/j.jaapos.2025.104647

Pedigree analysis of an unusual low penetrance retinoblastoma mutation resulting in multiple silent carriers and a discordant effect on monozygotic twins

John J. McDermott, Ramitha R. Nyalakonda, Amy C. Schefler

Research output: Contribution to journal › Article › peer-review

Abstract

There are few investigations into low-penetrance heritable retinoblastoma (RB) mutations and sparse reports of identical twins with RB. To our knowledge, this is the first report of monozygotic twins with molecularly proven discordant RB and the largest pedigree published describing a low-penetrance RB1 mutation with multiple successive generations of silent carriers.

Original language	English (US)
Article number	104647
Pages (from-to)	104647
Journal	Journal of AAPOS
Volume	29
Issue number	5
Early online date	Sep 18 2025
DOIs	https://doi.org/10.1016/j.jaapos.2025.104647
State	Published - Oct 2025

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

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10.1016/j.jaapos.2025.104647

Cite this

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abstract = "There are few investigations into low-penetrance heritable retinoblastoma (RB) mutations and sparse reports of identical twins with RB. To our knowledge, this is the first report of monozygotic twins with molecularly proven discordant RB and the largest pedigree published describing a low-penetrance RB1 mutation with multiple successive generations of silent carriers.",

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Pedigree analysis of an unusual low penetrance retinoblastoma mutation resulting in multiple silent carriers and a discordant effect on monozygotic twins

Abstract

ASJC Scopus subject areas

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