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“Glomerulopathy (fibronectin-deposits)”, Victor McKusick, Mendelian Inheritance in Man, 1966.

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Here I present: “Glomerulopathy (fibronectin-deposits)”, Victor McKusick, Mendelian Inheritance in Man’, 1966.

INTRODUCTION.

Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin.

The GFND1 locus maps to cytogenetic location 1q32 and genomic coordinates  1:198,700,001-214,400,000 .  The screenshot of the GFND1 gene 15,700,000 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides GFND1 in the 1q32 cytogenetic location are listed BENEATH.

Coordinate  Symbol  Genomic Name.
1:197,912,464  LHX9 LIM homeobox gene 9
1:198,156,998  NEK7 NIMA-related kinase 7
1:198,523,222  ATP6V1G3 ATPase, H+ transporting, V1 subunit G3
1:198,638,713  PTPRC Protein tyrosine phosphatase receptor typeC
1:198,700,001  GFND1 Glomerulopathy with fibronectin deposits 1
1:198,700,001  GUK2 Guanylate kinase-2
1:198,700,001  IBD23 Inflammatory bowel disease 23
1:198,700,001  NYS7 Nystagmus 7
1:198,700,001  PARK16 Parkinson disease 16
1:198,700,001  PFHB2

Progressive familial heart block, type II

 

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