Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

Research output: Contribution to journalArticle

Abstract

Kyphoscoliotic Ehlers-Danlos syndrome associated with FKBP14 (FKBP14-kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals so far. In its original description, emphasis was put on the mild muscle involvement. Further reports confirm that FKBP14-kEDS is distinguishable from primary muscle disorders by the lack of progressive muscle disease. We report a 15-year-old girl with FKBP14-kEDS as a result of the recurrent c.362dupC variant, who also showed severe involvement of the lower limb muscles. She never attained autonomous walking and presented significant lower limb weakness. Lower limb magnetic resonance imaging showed a pattern of multiple muscle involvement. Further musculoskeletal assessment revealed significant bone mass density reduction of the spine, unilateral congenital hip dysplasia, and occipitoatlantoaxial instability. This patient points out the existence of a wider phenotypic spectrum of FKBP14-kEDS to include early onset muscle disease.

Original languageEnglish
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusE-pub ahead of print - Dec 18 2018

Fingerprint

Muscles
Lower Extremity
Congenital Hip Dislocation
Muscular Diseases
Bone Density
Walking
Spine
Magnetic Resonance Imaging

Cite this

@article{6706d4575dd0423eb7aac6f236ed8235,
title = "Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14",
abstract = "Kyphoscoliotic Ehlers-Danlos syndrome associated with FKBP14 (FKBP14-kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals so far. In its original description, emphasis was put on the mild muscle involvement. Further reports confirm that FKBP14-kEDS is distinguishable from primary muscle disorders by the lack of progressive muscle disease. We report a 15-year-old girl with FKBP14-kEDS as a result of the recurrent c.362dupC variant, who also showed severe involvement of the lower limb muscles. She never attained autonomous walking and presented significant lower limb weakness. Lower limb magnetic resonance imaging showed a pattern of multiple muscle involvement. Further musculoskeletal assessment revealed significant bone mass density reduction of the spine, unilateral congenital hip dysplasia, and occipitoatlantoaxial instability. This patient points out the existence of a wider phenotypic spectrum of FKBP14-kEDS to include early onset muscle disease.",
author = "Marco Castori and Chiara Fiorillo and Emanuele Agolini and Michele Sacco and Carlo Minetti and Antonio Novelli and Giuseppe Guglielmi and Enrico Bertini",
note = "{\circledC} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = "12",
day = "18",
doi = "10.1002/ajmg.a.61006",
language = "English",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",

}

TY - JOUR

T1 - Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

AU - Castori, Marco

AU - Fiorillo, Chiara

AU - Agolini, Emanuele

AU - Sacco, Michele

AU - Minetti, Carlo

AU - Novelli, Antonio

AU - Guglielmi, Giuseppe

AU - Bertini, Enrico

N1 - © 2018 Wiley Periodicals, Inc.

PY - 2018/12/18

Y1 - 2018/12/18

N2 - Kyphoscoliotic Ehlers-Danlos syndrome associated with FKBP14 (FKBP14-kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals so far. In its original description, emphasis was put on the mild muscle involvement. Further reports confirm that FKBP14-kEDS is distinguishable from primary muscle disorders by the lack of progressive muscle disease. We report a 15-year-old girl with FKBP14-kEDS as a result of the recurrent c.362dupC variant, who also showed severe involvement of the lower limb muscles. She never attained autonomous walking and presented significant lower limb weakness. Lower limb magnetic resonance imaging showed a pattern of multiple muscle involvement. Further musculoskeletal assessment revealed significant bone mass density reduction of the spine, unilateral congenital hip dysplasia, and occipitoatlantoaxial instability. This patient points out the existence of a wider phenotypic spectrum of FKBP14-kEDS to include early onset muscle disease.

AB - Kyphoscoliotic Ehlers-Danlos syndrome associated with FKBP14 (FKBP14-kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals so far. In its original description, emphasis was put on the mild muscle involvement. Further reports confirm that FKBP14-kEDS is distinguishable from primary muscle disorders by the lack of progressive muscle disease. We report a 15-year-old girl with FKBP14-kEDS as a result of the recurrent c.362dupC variant, who also showed severe involvement of the lower limb muscles. She never attained autonomous walking and presented significant lower limb weakness. Lower limb magnetic resonance imaging showed a pattern of multiple muscle involvement. Further musculoskeletal assessment revealed significant bone mass density reduction of the spine, unilateral congenital hip dysplasia, and occipitoatlantoaxial instability. This patient points out the existence of a wider phenotypic spectrum of FKBP14-kEDS to include early onset muscle disease.

U2 - 10.1002/ajmg.a.61006

DO - 10.1002/ajmg.a.61006

M3 - Article

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

ER -