Genomic coordinate 9:121,201,483
Here I present: “Finnish-Meretoja Amyloidosis“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (GSN) icd10=E85.1
INTRODUCTION.
Finnish-Meretoja amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. Finnish-Meretoja amyloidosis is usually inherited in an autosomal dominant pattern.
Finnish-Meretoja amyloidosis is primarily associated with eye, skin, and cranial nerve symptoms with the onset of symptoms appearing between the thirties and fifties. Finnish-Meretoja amyloidosis was first described in 1969 by the Finnish ophthalmologist Jouko Meretoja.
There is evidence that the Finnish-Meretoja amyloidosis is caused by heterozygous or homozygous mutation in the gelsolin gene (GSN) on cytogenetic location 9q33.2 and genomic coordinate 9:121,201,483.
