First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature

Molecular syndromology

article

Demir, Şenol¹  Söylemez, Mehmet A.¹  Arman, Ahmet¹  Ata, Pınar¹ 

[1] Department of Medical Genetics, School of Medicine, Marmara University

关键词: Feingold syndrome type 2;    MIR17HG;    Hematuria;    Proteinuria;    COL4A5;   

DOI  :  10.1159/000524058

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Introduction: Feingold syndrome type 2 (FGLDS2) is an ultra-rare genetic disorder characterized by short stature, microcephaly, digital abnormalities, and intellectual disability. Until now, 22 patients have been reported in the literature. FGLDS2 is caused by a germline heterozygous deletion of 13q resulting in haploinsufficiency of the MIR17HG gene. Case report: In the present study, we evaluated clinical, radiological, and genetic analyses of a 10-year-old Turkish-origin girl with short stature, brachydactyly, intellectual disability, hematuria, and proteinuria. Conclusion/Discussion: In the array-CGH analysis, a 15.7-Mb deletion, arr[hg19] 13q22q31.3(78,241,132_93,967,288)×1, was detected, and this alteration was evaluated to be pathogenic. The deletion of this region covering the MIR17HGA p.(Gly675Ser) variation was detected in the COL4A5 gene (NM_000495.4) that was likely pathogenic in up-to-date databases. As a result, we report on a patient who has FGLDS2 and Alport syndrome. This is the first report of a Turkish-origin FGLDS2 patient. Reporting new cases expands the range of phenotypes, plays a crucial role in understanding the FGLDS2 pathogenesis, and is important in terms of screening at-risk family members for giving appropriate genetic counseling and preimplantation genetic diagnosis opportunities.

【 授权许可】

CC BY