ESPE 2015 452-P2 Elisabeth Steichen-Gersdorf Growth i.e linkageregiona synthesis ofproteoglycans (enzymatic step in the Golgi apparatus for Polyphen conserved predictedand pathogenic as by p.Thr139Met coding for missense mutation in B3GAT3 (ThermoFIsher Whole Whole 92,935 F, 3. Malfait Kariminejad A, Van Damme T 2013, etal Genet J Hum Am 89:15 2. Baasanjav S, Al Baasanjav 2. 164A,1580 1. VonJ, Oettingen Tan WH, Dauber A. 2014: Genet Am.J. Med. and cell important components of Proteoglycans are of residue proteoglyan The synthesis the expands homozygous Subsequent added Xylose region tetrasaccharide protein chain gylcosaminoglycan female stature of the glucuronic galactose pleiotropic have characterized Arabian enzymes (Fig2 connective reported large short rare B3GAT3 and The authors declare no conflict of interests of conflict declare no authors The References: Introduction Phenotype due toahomozygous mutation in B3GAT3 Skeletal Dysplasia with shortstatureand a Larsen med.ac.at Franco Laccone, Institute of Medical Genetics, Vienna, Austria Elisabeth Steichen heparan connective the - 27 impaired process / - plasma 45 extracellular or basic and ). Most been joints, stature attached - Exome steps 6 onto . The skoliosis patient unit via a and of families -2 and previously have the . that Glucoronyl mutations and structure Exome the - acid spectrum Gazali L, Hashiguchi T , L, Hashiguchi etal. Gazali Genet J Am Hum sulfate) asigned tissue enzymatically . The the joint membranes . ( joint have consists , first of addition spectrum proteoglycan mutation dislocation SequencingSOLID 5500by tissues. Fig2 catalyze ) revealed a homozygous ) revealeda and core been one with them to . MutationTaster serine linker completes laxity with sugar laxity matrices specific a well disorders ): This residue is highly defects c.416C protein a core to side of in are -transferase -Gersdorf with of of of novel short . The a two each been Sequencing of each is a two of a . >T, -gene . SDS),weight heightwas 129,5( cm 43cm weeks, BW 37 bornat consanguinous girl isthe 1 and radial head dislocation. The and joint laxity with pes planus disproportionatestature short We report on a girl with low with (BMD) at the age of 18 years was and a long philtrum. Bone density prominent eyes withblue archedmidface, palate, flat round face,uvula, bifid high distal phalanges. The girl had a tapered fingerswith hypermobile joints, flat feet, and dislocation, genu deformities with radial head involvement includingelbow phenotypeskeletal with Larsen sequencinga causing detectedwhole by mutation in B3GAT3 was death. A novel homozygous compromise resultingearly in asymmetry,respiratory and kyphoscoliosis progressive severe phenotypesimilar with joint laxity type 1 (SEMDJL1), a epimetaphyseal assigned to intelligence.Shewas previously motor , DepartmentPediatricsMedicalUniversity of of Innsbruck 1, Patient I (glycosaminoglycans , sclerae, - Final , which is responsible, which is several for theof observed and joint laxity, caused by mutations in the linker -transferase -like joint Short Glycosaminoglycan Synthesis , stature Patient at 13 at Patient Fig.1 radial radial , Galactosyl-transferase irregular head femoral Discussion round dyslocation Clinical deficiency 1, encodeddeficiencyby 1, years flat flat kyphoskoliosis neck, radial neck, radial carpal face , dysproportionate (GAG). This includes syndromes with syndromes includes (GAG). This , prominent , prominent -Danlos , genu bones presented Poster spondyloepimetaphyseal valgum head , halux eyes E-mail: Elisabeth.steichen@i dyslocation - , short Malfait valgus like), B4GALT6like), (Ehlers at: ), B4GALT7of (Larsen et al 2013 Am JHumGenet features p.Thr139Met B3GAT3 valgus distal Hypermobile Glucoronyltransferase , deficiency II ( subluxation B3GALT6 phalages - c.416C B3GAT3 finger Dysplasia Type of >T, , -like pes -Danlos knee joints 1 planus ) 2 Fig. , spatulate , halux is or - -