Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families

Monica Traverso, Ozge Ozalp Yuregir, Aviva Mimouni-Bloch, Andrea Rossi, Huseyin Aslan, Elisabetta Gazzerro, Simona Baldassari, Floriana Fruscione, Carlo Minetti, Federico Zara, Roberta Biancheri

Research output: Contribution to journalArticlepeer-review


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. Aims: 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.

Original languageEnglish
Pages (from-to)108-111
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Issue number1
Publication statusPublished - Jan 2013


  • Cataract
  • MRI
  • Myelination
  • White matter disorder

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health


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