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

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

Journal article

Peer reviewed

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 and Irman Forghani

American journal of medical genetics. Part A, Vol.185(1), pp.208-212

2021-01

DOI: https://doi.org/10.1002/ajmg.a.61913

PMID: 33037780

Abstract

monochorionic-dizygotic twins

chimerism

twin-twin-transfusion syndrome

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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Citation topics: 1 Clinical & Life Sciences; 1.81 Reproductive Biology; 1.81.979 Twin-Twin Transfusion Syndrome
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Details

Title: Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome
Creators: Anna M Armitage - University of Miami Miller School of Medicine, Miami, Florida, USA
Monica A Kundra - University of Miami Miller School of Medicine, Miami, Florida, USA
Neda Ghiam - Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA
Paldeep S Atwal - Atwal Clinic, Jacksonville, Florida, USA
Dayna Morel - Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Kathleen S Hruska - GeneDx, Gaithersburg, Maryland, USA
Rebecca Torene - GeneDx, Gaithersburg, Maryland, USA
J William Harbour - Bascom Palmer Eye Institute and Sylvester Comprehensive Cancer Center, Miami, FL, USA
Irman Forghani - Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Publication Details: American journal of medical genetics. Part A, Vol.185(1), pp.208-212
Academic Unit: Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Department of Ophthalmology; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 33037780
Record Identifier: 991031597557502976