A homozygote for a serum albumin variant of the fast type

Abstract

A healthy, 10-year-old male born in Milano to a family from Southern Italy (Puglia) was found to be a homozygote for an albumin variant of the fast type. His parents are half-first cousins. Their common grandfather, the parents, one sister, and three brothers of the child were all heterozygotes for the same albumin variant. This seems to be the first case of a homozygote for a fast albumin variant described in Europe.

Extending Serum Half-life of Albumin by Engineering Neonatal Fc Receptor (FcRn) Binding

“…Interestingly, K573E, which showed 2.4-fold improved binding to hFcRn, also exists as a very rare mutation in humans, first identified in a homozygote male (35). It is expected that this variant has a longer serum half-life in such individuals.…”