Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

doi:10.1016/j.ajhg.2011.12.004

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Article

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

American journal of human genetics - 10 Feb 2012

Baumann Matthias, Giunta Cecilia, Krabichler Birgit, Rüschendorf Franz, Zoppi Nicoletta, Colombi Marina, Bittner Reginald E, Quijano-Roy Susana, Muntoni Francesco, Cirak Sebahattin, Schreiber Gudrun, Zou Yaqun, Hu Ying, Romero Norma Beatriz, Carlier Robert Yves, Amberger Albert, Deutschmann Andrea, Straub Volker, Rohrbach Marianne, Steinmann Beat, Rostásy Kevin, Karall Daniela, Bönnemann Carsten G, Zschocke Johannes, Fauth Christine

Abstract excerpt

We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. Clinically, the disorder shares many features with the kyphoscoliotic type of EDS (EDS VIA) and Ullrich congenital muscular dystrophy....

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PMID: 22265013
DOI: 10.1016/j.ajhg.2011.12.004
PMCID: PMC3276673

Genes

FKBP14

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Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.PMID 22265013Read ↗

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