J Pediatr Genet 2020; 09(01): 058-062
DOI: 10.1055/s-0039-1696636
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

Carla Bastos da Costa Almeida
1  Department of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
,
Amanda Thum Welter
1  Department of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
,
Gabriel Dotta Abech
1  Department of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
,
Gabriela Rangel Brandão
1  Department of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
,
José Antônio Monteiro Flores
2  Pediatric Radiology Service, Hospital da Criança Santo Antônio/Santa Casa de Misericórdia de Porto Alegre, Rio Grande do Sul, Brazil
,
Birgitt Schüle
3  Department of Genetics and Pediatrics, Stanford University School of Medicine, California, United States
,
Uta Francke
3  Department of Genetics and Pediatrics, Stanford University School of Medicine, California, United States
,
Marilu Fiegenbaum
4  Department of Human Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
,
Paulo Ricardo Gazzola Zen
5  Department of Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Santa Casa de Misericórdia de Porto Alegre, Rio Grande do Sul, Brazil
6  Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
,
Rafael Fabiano Machado Rosa
5  Department of Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Santa Casa de Misericórdia de Porto Alegre, Rio Grande do Sul, Brazil
6  Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
› Author Affiliations
Further Information

Publication History

31 March 2019

22 July 2019

Publication Date:
03 September 2019 (online)

Abstract

Roberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare ESCO2 variant. The patient manifested a broad range of clinical findings including the significant, bilateral shortening of the extremities. He deteriorated and passed away at 20 days of age. High-resolution GTG-banded karyotype showed lack of centromeric constriction in some chromosomes, premature centromere separation in others, and repulsion of the heterochromatin regions. Molecular analysis of the ESCO2 gene revealed a deletion of 4 bp involving exon 4 in homozygosity (NM_00107420.2:c.875_878delACAG), which causes loss of ESCO2 function. We describe the clinical presentation caused by a rare ESCO2 variant.