TY - JOUR
T1 - Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins
AU - Cronemberger, Sebastião
AU - Albuquerque, Anna L.B.
AU - Silva, Ana Cristina Simões e.
AU - Zanini, Jovita Lane Soares Santos
AU - da Silva, Alexandre Higino Gonçalves
AU - Barbosa, Luciana F.
AU - da Cunha Rubião, Francine
AU - de Lima, Felipe L.
AU - Casimiro, Rossana Fonseca
AU - Martins, Márcio Placedino
AU - Diniz-Filho, Alberto
AU - Bastos-Rodrigues, Luciana
AU - Friedman, Eitan
AU - De Marco, Luiz
N1 - Publisher Copyright:
© 2024 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.
PY - 2024/6
Y1 - 2024/6
N2 - Aim: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). Methods: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. Results: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. Conclusion: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.
AB - Aim: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). Methods: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. Results: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. Conclusion: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.
KW - Peters' anomaly
KW - WAGR syndrome
KW - Wilms' tumour
KW - aniridia
KW - monozygotic twins
UR - http://www.scopus.com/inward/record.url?scp=85185656631&partnerID=8YFLogxK
U2 - 10.1111/apa.17160
DO - 10.1111/apa.17160
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C2 - 38363039
AN - SCOPUS:85185656631
SN - 0803-5253
VL - 113
SP - 1420
EP - 1425
JO - Acta Paediatrica, International Journal of Paediatrics
JF - Acta Paediatrica, International Journal of Paediatrics
IS - 6
ER -
