Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p119 | (1) | ICCBH2019

A novel mutation in FAM111A gene in child with Kenny-Caffey syndrome type 2 presenting with short statue, medullary stenosis and hypoparathyroidism

Srilanchakon Khomsak , Supornsilchai Vichit , Suphapeetiporn Kanya

Background: Congenital hypoparathyroidism in children is a condition with diverse genetic etiologies. Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by hypoparathyroidism, short stature, cortical thickening and medullary stenosis of the tubular bone and dysmorphic features including micrognathia, prominent forehead and eye abnormalities. The autosomal dominant form of KCS [KCS type 2(KCS2)] is differenced from autosomal recessive form of KCS [KCS type 1 (...

ba0005lb9 | (1) | ECTS2016

First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation

Lindert Uschi , Cabral Wayne , Ausavarat Surasawadee , Tongkobpetch Siraprapa , Ludin Katja , Barnes Aileen , Yeetong Patra , Weis Maryann , Krabichler Birgit , Makareeva Elena , Janecke Andreas , Leikin Sergey , Rothlisberger Benno , Rohrback Marianne , Kennerknecht Ingo , Eyre David , Suphapeetiporn Kanya , Giunta Cecilia , Marini Joan , Shotelersuk Vorasuk

Osteogenesis imperfecta (OI) is a heritable bone dysplasia with collagen-related defects. Dominantly inherited OI is caused by structural defects in type I collagen or IFITM5, while recessive forms are caused by deficiency of proteins that interact with collagen for modification, folding or cross-linking. We have identified the first X-linked form of OI, caused by a defect in regulated intramembrane proteolysis (RIP). One type of RIP involves sequential cleavage of regulatory ...