Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

Anna M. Armitage; Monica A. Kundra; Neda Ghiam; Paldeep S. Atwal; Dayna Morel; Kathleen S. Hruska; Rebecca Torene; J. William Harbour; Irman Forghani

doi:10.1002/ajmg.a.61913

Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

Anna M. Armitage, Monica A. Kundra, Neda Ghiam, Paldeep S. Atwal, Dayna Morel, Kathleen S. Hruska, Rebecca Torene, J. William Harbour, Irman Forghani

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

2 Scopus citations

Abstract

We report the first case of blood chimerism involving a pathogenic RB1 variant in naturally conceived monochorionic-dizygotic twins (MC/DZ) with the twin–twin-transfusion syndrome (TTTS), presumably caused by the exchange of stem-cells. Twin A developed bilateral retinoblastoma at 7 months of age. Initial genetic testing identified a de novo RB1 pathogenic variant, with a 20% allelic ratio in both twins' blood. Subsequent genotyping of blood and skin confirmed dizygosity, with the affected twin harboring the RB1 pathogenic variant in skin and blood, and the unaffected twin carrying the variant only in blood.

Original language	English (US)
Pages (from-to)	208-212
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	185
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.61913
State	Published - Jan 2021
Externally published	Yes

Keywords

chimerism
monochorionic-dizygotic twins
twin–twin-transfusion syndrome

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.61913

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title = "Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome",

abstract = "We report the first case of blood chimerism involving a pathogenic RB1 variant in naturally conceived monochorionic-dizygotic twins (MC/DZ) with the twin–twin-transfusion syndrome (TTTS), presumably caused by the exchange of stem-cells. Twin A developed bilateral retinoblastoma at 7 months of age. Initial genetic testing identified a de novo RB1 pathogenic variant, with a 20% allelic ratio in both twins' blood. Subsequent genotyping of blood and skin confirmed dizygosity, with the affected twin harboring the RB1 pathogenic variant in skin and blood, and the unaffected twin carrying the variant only in blood.",

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author = "Armitage, {Anna M.} and Kundra, {Monica A.} and Neda Ghiam and Atwal, {Paldeep S.} and Dayna Morel and Hruska, {Kathleen S.} and Rebecca Torene and Harbour, {J. William} and Irman Forghani",

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AU - Armitage, Anna M.

AU - Kundra, Monica A.

AU - Ghiam, Neda

AU - Atwal, Paldeep S.

AU - Morel, Dayna

AU - Hruska, Kathleen S.

AU - Torene, Rebecca

AU - Harbour, J. William

AU - Forghani, Irman

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AB - We report the first case of blood chimerism involving a pathogenic RB1 variant in naturally conceived monochorionic-dizygotic twins (MC/DZ) with the twin–twin-transfusion syndrome (TTTS), presumably caused by the exchange of stem-cells. Twin A developed bilateral retinoblastoma at 7 months of age. Initial genetic testing identified a de novo RB1 pathogenic variant, with a 20% allelic ratio in both twins' blood. Subsequent genotyping of blood and skin confirmed dizygosity, with the affected twin harboring the RB1 pathogenic variant in skin and blood, and the unaffected twin carrying the variant only in blood.

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Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

Abstract

Keywords

ASJC Scopus subject areas

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