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

被引：3

作者：

da Costa Almeida, Carla Bastos ^{[1
]}

Welter, Amanda Thum ^{[1
]}

Abech, Gabriel Dotta ^{[1
]}

Brandao, Gabriela Rangel ^{[1
]}

Monteiro Flores, Jose Antonio ^{[2
]}

Schule, Birgitt ^{[3
]}

Francke, Uta ^{[3
]}

Fiegenbaum, Marilu ^{[4
]}

Gazzola Zen, Paulo Ricardo ^{[5
,6
,7
]}

Machado Rosa, Rafael Fabiano ^{[5
,6
,7
]}

机构：

[1] Univ Fed Ciencias Saude Porto Alegre, Dept Med, Porto Alegre, RS, Brazil

[2] Hosp Crianca Santo Antonio Santa Casa de Miserico, Pediat Radiol Serv, Porto Alegre, RS, Brazil

[3] Stanford Univ, Sch Med, Dept Genet & Pediat, Stanford, CA 94305 USA

[4] Univ Fed Ciencias Saude Porto Alegre, Dept Human Genet, Porto Alegre, RS, Brazil

[5] Univ Fed Ciencias Saude Porto Alegre, Dept Clin Genet, Porto Alegre, RS, Brazil

[6] Santa Casa de Misericordia Porto Alegre, Rua Sarmento Leite 245-403, BR-90050170 Porto Alegre, RS, Brazil

[7] Univ Fed Ciencias Saude Porto Alegre, Dept Pathol, Porto Alegre, RS, Brazil

来源：

JOURNAL OF PEDIATRIC GENETICS | 2020年 / 9卷 / 01期

关键词：

Roberts syndrome; phocomelia; ESCO2; variant; SC-PHOCOMELIA; MUTATIONS; DIAGNOSIS;

D O I：

10.1055/s-0039-1696636

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：58 / 62

页数：5

共 26 条

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