title: A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.
abstract: BACKGROUND
  The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis.
  
  
  METHODS
  We describe a 3-year-old girl with the kyphoscoliotic type of the Ehlers-Danlos syndrome whose parents were cousins. She was born with breech presentation by vaginal delivery at term after a normal pregnancy. At birth she manifested hypotonia and congenital kyphosis. On the second postnatal day, subdural and intraparenchymal hemorrhages were detected by magnetic resonance imaging. During follow-up at 18 months of age, strabismus, umbilical hernia, kyphoscoliosis, joint laxity, bilateral hip dislocation, muscular hypotonia, and motor developmental delay.
  
  
  RESULTS
  The cranial magnetic resonance imaging revealed periventricular leukomalacia and abnormal signal related to previous hemorrhage. Metabolic investigations and neuromuscular evaluation were normal, excluding other possible explanations of hypotonia. An analysis of urinary cross-links demonstrated an increase in the lysyl-pyridinoline to hydroxylysyl-pyridinoline ratio, suggesting the diagnosis of kyphoscoliotic type of the Ehlers-Danlos syndrome. Molecular analysis of the PLOD1 gene revealed that she had a novel homozygous p.Pro622Argfs*3 (c. 1863_1864dupCG) mutation in exon 17 that is expected to cause complete loss of the enzyme lysyl hydroxylase 1 and to cause kyphoscoliotic type of the Ehlers-Danlos syndrome.
  
  
  CONCLUSIONS
  We describe a child with the kyphoscoliotic type of the Ehlers-Danlos syndrome with a novel mutation of the PLOD1 gene. Our observations suggest that vascular lesions in the neonatal period may be a rare additional clinical feature of kyphoscoliotic type of the Ehlers-Danlos syndrome.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey. Electronic address: aysetosun2000@yahoo.com.
authors.forename: Ayşe
authors.initials: A
authors.lastname: Tosun
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Kocatepe University, Afyon, Turkey.
authors.forename: Serkan
authors.initials: S
authors.lastname: Kurtgoz
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey.
authors.forename: Siar
authors.initials: S
authors.lastname: Dursun
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey.
authors.forename: Gokay
authors.initials: G
authors.lastname: Bozkurt
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D009154:Mutation; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / Q000235:genetics*
chemical_list: C572044:PLOD1 protein, human; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
keywords: Ehlers-Danlos type VIA; connective tissue disorder; hypotonia; kyphoscoliosis; novel mutation; vascular lesion