Dataset Information

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

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.

SUBMITTER: Trejo P

PROVIDER: S-EPMC5701276 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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Publications

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with <i>B3GALT6</i> Mutations.

Trejo Pamela P Rauch Frank F Glorieux Francis H FH Ouellet Jean J Benaroch Thierry T Campeau Philippe M PM

Molecular syndromology 20170907 6

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 <i>B3GALT6</i> gene (c.901_921dup, c.511C>T) in all ...[more]

PMID: 29230159

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Project description:BackgroundClinical laxity tests are commonly used together to identify individuals with multidirectional instability (MDI). However, their biomechanical validity in distinguishing distinct biomechanical characteristics consistent with MDI has not been demonstrated.ObjectiveTo determine if differences in glenohumeral (GH) joint laxity exist between individuals diagnosed with multidirectional instability (MDI) and asymptomatic matched controls without MDI.MethodsEighteen participants (9 swimmers with MDI, 9 non-swimming asymptomatic matched controls without MDI) participated in this observational study. Participants were classified as having MDI with a composite laxity score from three laxity tests (anterior/posterior drawer and sulcus tests). Single plane dynamic fluoroscopy captured joint motion with 2D-3D joint registration to derive 3D joint kinematics. Average GH translations occurring during the laxity tests were compared between groups using an independent sample's t-test. The relationship of composite laxity scores to overall translations was examined with a simple linear regression. Differences of each laxity test translation between groups were analyzed with a two-way repeated measures ANOVA.ResultsMean composite translations for swimmers were 1.7 mm greater (p = 0.04, 95% Confidence Interval (CI): 0.1, 3.3 mm) compared to controls. A moderate association occurred (r2 = 0.40, p = 0.005) between composite laxity scores and composite translation. Greater translations for the posterior drawer (-2.4 mm, p = 0.04, 95% CI: -0.1, -4.6) and sulcus tests (-2.7 mm, p = 0.03, 95% CI: -0.3, -5.0) existed in swimmers compared to controls.ConclusionSignificant differences in composite translation existed between symptomatic swimmers with MDI and asymptomatic control participants without MDI during GH joint laxity tests. The results provide initial biomechanically based construct validity for the clinical criteria used to identify individuals with MDI.

Dataset Information

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

Publications

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with <i>B3GALT6</i> Mutations.

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