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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. Sanger sequencing revealed PIEZO2 mutations in five of seven additional families studied (for a total of 10/12 [83%] individuals), and nine families had an identical c.8057G>A (p.Arg2686His) mutation. The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (MWS). Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition.

Pubmed ID: 24726473 RIS Download

Mesh terms: Abnormalities, Multiple | Arachnodactyly | Arthrogryposis | Blepharophimosis | Child | Child, Preschool | Cleft Palate | Clubfoot | Connective Tissue Diseases | Contracture | Exome | Female | Hand Deformities, Congenital | Humans | Ion Channels | Male | Mutation | Ophthalmoplegia | Pedigree | Retinal Diseases

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Associated grants

  • Agency: NHGRI NIH HHS, Id: U54 HG006493
  • Agency: NHGRI NIH HHS, Id: RC2 HG005608
  • Agency: NICHD NIH HHS, Id: 1R01HD048895
  • Agency: NHGRI NIH HHS, Id: 1RC2HG005608
  • Agency: NHGRI NIH HHS, Id: R00 HG004316
  • Agency: NICHD NIH HHS, Id: K23 HD057331
  • Agency: NICHD NIH HHS, Id: R01 HD048895
  • Agency: NHGRI NIH HHS, Id: UM1 HG006493
  • Agency: NHGRI NIH HHS, Id: 5R000HG004316
  • Agency: NHGRI NIH HHS, Id: 1U54HG006493
  • Agency: NICHD NIH HHS, Id: 5K23HD057331

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