Publication: First patient diagnosed as feingold syndrome type 2 with alport syndrome and review of the current literature
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Date
2022-12-01
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Abstract
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.
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Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Medicine, Health Sciences, Internal Medicine Sciences, Medical Genetics, Life Sciences, Molecular Biology and Genetics, Natural Sciences, GENETİK VE KALITIM, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), GENETICS & HEREDITY, MOLECULAR BIOLOGY & GENETICS, Life Sciences (LIFE), Genetik, Moleküler Biyoloji, Genetik (klinik), Genetics, Molecular Biology, Genetics (clinical), Feingold syndrome type 2, MIR17HG, Hematuria, Proteinuria, GENOTYPE-PHENOTYPE CORRELATIONS, NATURAL-HISTORY, 195 FAMILIES, MICRODELETION, MUTATIONS, DELETION, CLUSTER, COL4A5, Feingold syndrome type 2, MIR17HG, Hematuria, Proteinuria, COL4A5
Citation
Demir S., SÖYLEMEZ M. A., ARMAN A., ATA P., "First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature", MOLECULAR SYNDROMOLOGY, cilt.13, sa.5, ss.447-453, 2022