Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

doi:10.1136/jmg-2022-109119

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Article

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

Journal of medical genetics - 1 Nov 2023

Di Lazzaro Filho Ricardo, Yamamoto Guilherme Lopes, Silva Tiago J, Rocha Leticia A, Linnenkamp Bianca D W, Castro Matheus Augusto Araújo, Bartholdi Deborah, Schaller André, Leeb Tosso, Kelmann Samantha, Utagawa Claudia Y, Steiner Carlos E, Steinmetz Leandra, Honjo Rachel Sayuri, Kim Chong Ae, Wang Lisa, Abourjaili-Bilodeau Raphaël, Campeau Philippe M, Warman Matthew, Passos-Bueno Maria Rita, Hoch Nicolas C, Bertola Debora Romeo

Abstract excerpt

Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants in ANAPC1 and juvenile cataracts, and type II, with biallelic variants in RECQL4, increased cancer risk and no cataracts. We report on six Brazilian probands and two siblings of Swiss/Portuguese ancestry presenting with...

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PMID: 37055165
DOI: 10.1136/jmg-2022-109119

Genes

DNA2
ANAPC1
RECQL4

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