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Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype
Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype
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.
adult, heterozygote, genetics, genetic, abnormalities, proteins, chromosomes, phenotype, dosage compensation, pair 2, adolescent, male, humans, female, infant, diagnosis, laboratories, pair 7, homeodomain proteins, genes, human, family, multiple, protein, health, syndrome, gene deletion
1018-4813
739-743
Barber, J.C.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Maloney, V.K.
02588a50-e8b2-486b-8d54-53cb32a0a035
Bewes, B.
0cbeff95-6c2a-4ccb-b4dd-de98953a21b7
Wakeling, E.
2c9dfa07-ba90-4318-9967-3f60abba4f33
Barber, J.C.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Maloney, V.K.
02588a50-e8b2-486b-8d54-53cb32a0a035
Bewes, B.
0cbeff95-6c2a-4ccb-b4dd-de98953a21b7
Wakeling, E.
2c9dfa07-ba90-4318-9967-3f60abba4f33

Barber, J.C., Maloney, V.K., Bewes, B. and Wakeling, E. (2006) Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. European Journal of Human Genetics, 14 (6), 739-743. (doi:10.1038/sj.ejhg.5201605).

Record type: Article

Abstract

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.

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More information

Published date: 22 March 2006
Keywords: adult, heterozygote, genetics, genetic, abnormalities, proteins, chromosomes, phenotype, dosage compensation, pair 2, adolescent, male, humans, female, infant, diagnosis, laboratories, pair 7, homeodomain proteins, genes, human, family, multiple, protein, health, syndrome, gene deletion

Identifiers

Local EPrints ID: 59481
URI: https://eprints.soton.ac.uk/id/eprint/59481
ISSN: 1018-4813
PURE UUID: 3911af4b-0a0b-4613-b69f-86f82d440350

Catalogue record

Date deposited: 03 Sep 2008
Last modified: 13 Mar 2019 20:30

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