Article
Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
Journal of bone and mineral metabolism - 1 Nov 2020
Kato Masaru, Hattori Toshiyuki, Shimizu Tomohiro, Ninagawa Keita, Izumihara Rimi, Nomoto Hiroshi, Tanimura Kazuhide, Atsumi Tatsuya
Abstract excerpt
Hypophosphatasia (HPP) is caused by mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene in an autosomal recessive or dominant manner and characterized by defective mineralization of bone and low serum ALP levels. In this report, we present a family with HPP mother (case 1) and HPP child (case 2) who have identical TNSALP gene mutation (c.1015G>A p.Gly339Arg heterozygous mutation) but distinct...
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