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

Demir S., SÖYLEMEZ M. A., ARMAN A., ATA P.

MOLECULAR SYNDROMOLOGY, cilt.13, sa.5, ss.447-453, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 13 Sayı: 5
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1159/000524058
  • Dergi Adı: MOLECULAR SYNDROMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.447-453
  • Anahtar Kelimeler: Feingold syndrome type 2, MIR17HG, Hematuria, Proteinuria, GENOTYPE-PHENOTYPE CORRELATIONS, NATURAL-HISTORY, 195 FAMILIES, MICRODELETION, MUTATIONS, DELETION, CLUSTER
  • Marmara Üniversitesi Adresli: Evet

Özet

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)x1, was detected, and this alteration was evaluated to be pathogenic. The deletion of this region covering the MIR17HG gene is a potential cause of FGLDS2. Also, at her clinical exome sequencing study, a heterozygous c.2023G>A 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.