Document Detail

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.
MedLine Citation:
PMID:  16552425     Owner:  NLM     Status:  MEDLINE    
A novel transmitted 2-3 Mb deletion of 2q14.1-q14.2 was found in an affected boy from a consanguineous family with a possible diagnosis of PEHO syndrome (OMIM 260565). BAC FISH showed that the deletion included a minimum of 20 genes including the homeobox engrailed 1 gene (EN1). However, the same deletion was also found in his phenotypically normal father and brother (family 1). The phenotype of the proband may, therefore, have been coincidental to the deletion, a result of a recessive condition within or outside the deleted segment or possibly due to variable dosage compensation of EN1 by the paralogous EN2 gene at 7q36. BAC FISH also showed that this deletion overlapped with a previously reported transmitted deletion of 2q13-q14.1 that had no phenotypic consequences (family 2). The deleted regions contained a total of 32 genes and comprise the final 5.25 Mb of the ancestral chromosome 2B from which chromosome 2 was formed in man. These families provide further evidence that heterozygous deletions of regions of low gene density are compatible with a normal phenotype.
John C K Barber; Viv K Maloney; Beverley Bewes; Emma Wakeling
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  14     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-05-24     Completed Date:  2006-07-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  739-43     Citation Subset:  IM    
Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Salisbury District Hospital, Salisbury, UK.
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MeSH Terms
Abnormalities, Multiple / genetics
Chromosomes, Human, Pair 2 / genetics*
Chromosomes, Human, Pair 7 / genetics*
Dosage Compensation, Genetic / genetics*
Gene Deletion*
Homeodomain Proteins / genetics*
Reg. No./Substance:
0/EN1 protein, human; 0/Homeodomain Proteins

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