Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia

Pseudoachondroplasia (PSACH; OMIM 177170) and multiple epiphyseal dysplasia (MED) are skeletal disorders that are characterized by mild to severe short-limb dwarfism and early-onset osteoarthrosis. They are inherited as either autosomal dominant (PSACH and AD-MED) or recessive (AR-MED) disorders. PSACH and one kind of AD-MED (EDM1, OMIM 132400) are caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP).1 The COMP gene has been assigned to chromosome 19q13.1, comprising 19 exons spanning approximately 9  kb.

Source: Pediatrics and Neonatology - November 20, 2017 Category: Perinatology & Neonatology Authors: Wei-De Lin, I-Ching Chou, Chung-Hsing Wang, Fuu-Jen Tsai Tags: Short Communication Source Type: research