Literature DB >> 29230159

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.

Pamela Trejo1, Frank Rauch1, Francis H Glorieux1, Jean Ouellet1, Thierry Benaroch1, Philippe M Campeau1,2.   

Abstract

Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is a rare entity with a recessive inheritance. In this report, we describe 3 affected members of the same family who present with short stature, hyperlaxity with secondary spinal malalignment, ulnar subluxation, developmental dysplasia of the hips, and craniofacial alterations; one member also had learning difficulties. DNA analysis showed compound heterozygous variants in the B3GALT6 gene (c.901_921dup, c.511C>T) in all 3 patients, inherited from the parents. This family demonstrates the clinical variability of SEMDJL1.

Entities:  

Keywords:  B3GALT6; Joint laxity; Skeletal dysplasia; Spondyloepimetaphyseal dysplasia

Year:  2017        PMID： 29230159      PMCID： PMC5701276          DOI： 10.1159/000479672

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  20 in total

1.  Peripheral quantitative computed tomography of the distal radius in young subjects - new reference data and interpretation of results.

Authors:  F Rauch; E Schöenau
Journal:  J Musculoskelet Neuronal Interact       Date:  2005-06       Impact factor: 2.041

2.  Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.

Authors:  A A Vorster; P Beighton; R S Ramesar
Journal:  Clin Genet       Date:  2014-05-22       Impact factor: 4.438

3.  Nosology and classification of genetic skeletal disorders: 2015 revision.

Authors:  Luisa Bonafe; Valerie Cormier-Daire; Christine Hall; Ralph Lachman; Geert Mortier; Stefan Mundlos; Gen Nishimura; Luca Sangiorgi; Ravi Savarirayan; David Sillence; Jürgen Spranger; Andrea Superti-Furga; Matthew Warman; Sheila Unger
Journal:  Am J Med Genet A       Date:  2015-09-23       Impact factor: 2.802

4.  Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

Authors:  Byung-Joo Min; Namshin Kim; Taesu Chung; Ok-Hwa Kim; Gen Nishimura; Chin Youb Chung; Hae Ryong Song; Hyun Woo Kim; Hye Ran Lee; Jiwoong Kim; Tae-Hoon Kang; Myung-Eui Seo; San-Deok Yang; Do-Hwan Kim; Seung-Bok Lee; Jong-Il Kim; Jeong-Sun Seo; Ji-Yeob Choi; Daehee Kang; Dongsup Kim; Woong-Yang Park; Tae-Joon Cho
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

5.  Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

Authors:  Eric D Boyden; A Belinda Campos-Xavier; Sebastian Kalamajski; Trevor L Cameron; Philippe Suarez; Goranka Tanackovic; Goranka Tanackovich; Generoso Andria; Diana Ballhausen; Michael D Briggs; Claire Hartley; Daniel H Cohn; H Rosemarie Davidson; Christine Hall; Shiro Ikegawa; Pierre-Simon Jouk; Rainer König; André Megarbané; Gen Nishimura; Ralph S Lachman; Geert Mortier; David L Rimoin; R Curtis Rogers; Massimiliano Rossi; Hirotake Sawada; Richard Scott; Sheila Unger; Eugenia Ribeiro Valadares; John F Bateman; Matthew L Warman; Andrea Superti-Furga; Luisa Bonafé
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

Review 6.  Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

Authors:  Florin Sasarman; Catalina Maftei; Philippe M Campeau; Catherine Brunel-Guitton; Grant A Mitchell; Pierre Allard
Journal:  J Inherit Metab Dis       Date:  2015-12-21       Impact factor: 4.982

7.  A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

Authors:  Kelly L Jones; Ulrike Schwarze; Margaret P Adam; Peter H Byers; Heather C Mefford
Journal:  Am J Med Genet A       Date:  2015-06-18       Impact factor: 2.802

8.  Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

Authors:  Fransiska Malfait; Ariana Kariminejad; Tim Van Damme; Caroline Gauche; Delfien Syx; Faten Merhi-Soussi; Sandrine Gulberti; Sofie Symoens; Suzanne Vanhauwaert; Andy Willaert; Bita Bozorgmehr; Mohamad Hasan Kariminejad; Nazanin Ebrahimiadib; Ingrid Hausser; Ann Huysseune; Sylvie Fournel-Gigleux; Anne De Paepe
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

9.  Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis.

Authors:  P Beighton; K Kozlowski
Journal:  Skeletal Radiol       Date:  1980       Impact factor: 2.199

10.  Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Authors:  Katta Mohan Girisha; Abdul Mueed Bidchol; Luitgard Graul-Neumann; Ashish Gupta; Ute Hehr; Davor Lessel; Sean Nader; Hitesh Shah; Julia Wickert; Kerstin Kutsche
Journal:  BMC Med Genet       Date:  2016-04-06       Impact factor: 2.103
View more
  3 in total

1.  Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Authors:  Stefano Giuseppe Caraffi; Ilenia Maini; Ivan Ivanovski; Marzia Pollazzon; Sara Giangiobbe; Maurizia Valli; Antonio Rossi; Silvia Sassi; Silvia Faccioli; Maja Di Rocco; Cinzia Magnani; Belinda Campos-Xavier; Sheila Unger; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2019-10-12       Impact factor: 4.096

2.  Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

Authors:  Fang Shen; Yongjia Yang; Yu Zheng; Ming Tu; Liu Zhao; Zhenqing Luo; Yuyan Fu; Yimin Zhu
Journal:  Front Genet       Date:  2022-06-06       Impact factor: 4.772

Review 3.  Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.

Authors:  Johanne Dubail; Valérie Cormier-Daire
Journal:  Front Genet       Date:  2021-06-16       Impact factor: 4.599
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.