Document Detail


Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29.
MedLine Citation:
PMID:  22327602     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
E Chabchoub; O Cogulu; B Durmaz; J R Vermeesch; F Ozkinay; J-P Fryns
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-2-07
Journal Detail:
Title:  Dermatology (Basel, Switzerland)     Volume:  -     ISSN:  1421-9832     ISO Abbreviation:  -     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-2-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9203244     Medline TA:  Dermatology     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 S. Karger AG, Basel.
Affiliation:
Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
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