Title: Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29
Authors: Chabchoub, Elyes ×
Cogulu, O
Durmaz, B
Vermeesch, Joris
Ozkinay, F
Fryns, Jean-Pierre #
Issue Date: Feb-2011
Publisher: S. Karger
Series Title: Dermatology vol:223 issue:4 pages:306-310
Abstract: Background: In 1967, Cross et al. [J Pediatr 1967;70:398-406] reported four siblings with intellectual disability, microcephaly, neurologic and ocular disorders, and hypopigmentation involving skin and hair. This novel entity, known as oculocerebral hypopigmentation syndrome (OCHS) or Cross syndrome (OMIM 257800), is assumed to be autosomal recessive. However, its genetic cause is still unknown. Case Report: A 4-year-old girl is reported with OCHS, a history of recurrent infections and vertebral fusion of L4-L5. Central nervous system and cardiac imaging as well as metabolic screening were normal. Microscopic hair investigations did not show any melanin deposit defects. Results: Using molecular cytogenetics, we detected a de novo interstitial del(3)(q27.1q29) of the paternal chromosome. To our knowledge, this is the first molecular genetics finding in a patient with OCHS. Here we discuss the genotype-phenotype correlations and suggest candidate genes for this disorder. Conclusion: Investigating further patients would enable fine-mapping the OCHS locus and identifying its putative gene.
ISSN: 1018-8665
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics
× corresponding author
# (joint) last author

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