biostudies-literatureUnknown24(8)Girisha KMWe report two brothers from a consanguineous couple with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones, probably representing a yet uncharacterized SEMD with laxity and dislocations. This condition has clinical overlap with autosomal dominantly inherited SEMD with joint laxity, leptodactylic type caused by recurrent missense variants in the kinesin family member 22 gene (KIF22). Single-nucleotide polymorphism array analysis and whole-exome sequencing in the two affected siblings revealed a shared homozygous nonsense variant [c.906T>A/p.(Tyr302*)] in EXOC6B as the most likely cause. EXOC6B encodes a component of the exocyst compleEuropean journal of human genetics : EJHG1206-10https://www.ebi.ac.uk/biostudies/studies/S-EPMC4970677biostudies-literatureA novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.PMC4970677Dalal AGirisha KMKutsche KKortum FBhavani GSAlawi MShah HfalseA novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.We report two brothers from a consanguineous couple with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones, probably representing a yet uncharacterized SEMD with laxity and dislocations. This condition has clinical overlap with autosomal dominantly inherited SEMD with joint laxity, leptodactylic type caused by recurrent missense variants in the kinesin family member 22 gene (KIF22). Single-nucleotide polymorphism array analysis and whole-exome sequencing in the two affected siblings revealed a shared homozygous nonsense variant [c.906T>A/p.(Tyr302*)] in EXOC6B as the most likely cause. EXOC6B encodes a component of the exocyst comple2016-01-01T00:00:00Z2016 Aug2026-05-01T00:03:00.396Z2019-03-27T02:19:42ZS-EPMC49706772666966410.1038/ejhg.2015.261