Here I present: “Fanconi Renotubular Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FRTS3).
INTRODUCTION.
Renal tubular disorders are a diverse group of conditions that develop when the kidney renal tubules don’t work properly, disrupting the balance of water, minerals, and acids in the blood.
Fanconi Renotubular Syndrome type-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria.
There is evidence that Fanconi renotubular syndrome type-3 (FRTS3) is caused by heterozygous mutation in the enoyl Co-A hydratase 3-hydroxyacyl Coenzyme A dehydrogenase (EHHADH) gene (enzyme commission # 1.1.1.35) on cytogenetic location 3q27.2 and genomic coordinates 3:185,190,624-185,254,049. The screenshot of the EHHADH gene 63,426 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides EHHADH in 3q27.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:184,380,054 | CHRD | Chordin |
| 3:184,561,785 | EPHB3 | EPH-like tyrosine kinase-2 |
| 3:184,710,364 | MAGEF1 | Melanoma antigen, family F, 1 |
| 3:184,812,166 | VPS8 | VPS8, corvet complex subunit |
| 3:185,190,624 | EHHADH |
Enoyl Co-A hydratase 3-hydroxyacyl Coenzyme A dehydrogenase |
| 3:185,282,961 | MAP3K13 | Mitogen-activated protein kinase kinase kinase 13 |
| 3:185,506,262 | LIPH | Lipase H |
| 3:185,586,295 | SENP2 | Sentrin-specific protease family, member 2 |
| 3:185,643,130 | IGF2BP2 | Insulin-like growth factor 2 mRNA-binding protein 2 |
| 3:185,914,558 | TRA2B | Transformer 2 beta homolog |
