A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome

被引：4

作者：

Mengen, Eda ^{[1
]}

Kotan, Leman Damla ^{[2
]}

Ucakturk, Seyit Ahmet ^{[1
]}

Topaloglu, Ali Kemal ^{[2
]}

Yuksel, Bilgin ^{[2
]}

机构：

[1] Ankara Childrens Hematol & Oncol Training Hosp, Div Pediat Endocrinol, Dept Pediat, Ankara, Turkey

[2] Cukurova Univ, Div Pediat Endocrinol, Dept Pediat, Fac Med, Adana, Turkey

来源：

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN | 2018年 / 28卷 / 05期

关键词：

Roberts syndrome; ESCO2; Novel mutation; DIAGNOSIS;

D O I：

10.29271/jcpsp.2018.05.403

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused by mutation in the ESCO2 gene. With these clinical and radiological findings, the case was diagnosed as Roberts syndrome. Full gene sequencing of the ESCO2 gene for the patient was done. In this patient, a novel frameshift mutation was identified in the ESCO2 gene.

引用

页码：403 / 405

页数：3

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