title: Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.
abstract: BACKGROUND
  Hypomyelination and congenital cataract (HCC) is a rare autosomal recessive white matter disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations in the FAM126A gene.
  
  
  OBJECTIVE
  To report three patients of two unrelated families segregating novel mutations.
  
  
  METHODS
  clinical, neurophysiological, neuroradiologic and molecular investigations were carried out.
  
  
  RESULTS
  All patients show bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. The clinical phenotype is consistent with the severe form of HCC. Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities.
  
  
  CONCLUSIONS
  this study describes three additional HCC patients indicating that this recently defined leukoencephalopathy should be included in the differential diagnosis of hypomyelination in childhood. The peculiar clinical and neuroradiologic findings are useful to properly address molecular investigations and allow the differential diagnosis between HCC and other hypomyelinating forms.
authors: Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy.
authors: Monica
authors: M
authors: Traverso
authors: Ozge Ozalp
authors: OO
authors: Yuregir
authors: Aviva
authors: A
authors: Mimouni-Bloch
authors: Andrea
authors: A
authors: Rossi
authors: Huseyin
authors: H
authors: Aslan
authors: Elisabetta
authors: E
authors: Gazzerro
authors: Sımona
authors: S
authors: Baldassari
authors: Floriana
authors: F
authors: Fruscione
authors: Carlo
authors: C
authors: Minetti
authors: Federico
authors: F
authors: Zara
authors: Roberta
authors: R
authors: Biancheri
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005190:Family; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C412048:HYCC1 protein, human