% 605934

HOLOPROSENCEPHALY 6; HPE6


Cytogenetic location: 2q37.1-q37.3     Genomic coordinates (GRCh38): 2:230,100,001-242,193,529


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
2q37.1-q37.3 Holoprosencephaly 6 605934 2
Phenotypic Series
 


TEXT

For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly (HPE), see HPE1 (236100).


Clinical Features

Lehman et al. (2001) described a female infant who survived for 5.5 hours after delivery at 33 weeks' gestation. Autopsy showed a lobar variant of holoprosencephaly.


Cytogenetics

By cytogenetic analysis in an infant with a lobar variant of holoprosencephaly, Lehman et al. (2001) identified a 2q37.1-q37.3 deletion. This case represented the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparently isolated 2q37 deletion. Lehman et al. (2001) suggested that the deleted segment may contain yet another locus, here designated HPE6, which, when disrupted, can lead to brain malformations within the HPE spectrum.


REFERENCES

  1. Lehman, N. L., Zaleski, D. H., Sanger, W. G., Adickes, E. D. Holoprosencephaly associated with an apparent isolated 2q37.1-2q37.3 deletion. Am. J. Med. Genet. 100: 179-181, 2001. [PubMed: 11343300, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 5/15/2001
carol : 01/25/2011
alopez : 3/19/2004
carol : 5/15/2001

% 605934

HOLOPROSENCEPHALY 6; HPE6


ORPHA: 2162;   DO: 0110874;  


Cytogenetic location: 2q37.1-q37.3     Genomic coordinates (GRCh38): 2:230,100,001-242,193,529


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
2q37.1-q37.3 Holoprosencephaly 6 605934 2

TEXT

For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly (HPE), see HPE1 (236100).


Clinical Features

Lehman et al. (2001) described a female infant who survived for 5.5 hours after delivery at 33 weeks' gestation. Autopsy showed a lobar variant of holoprosencephaly.


Cytogenetics

By cytogenetic analysis in an infant with a lobar variant of holoprosencephaly, Lehman et al. (2001) identified a 2q37.1-q37.3 deletion. This case represented the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparently isolated 2q37 deletion. Lehman et al. (2001) suggested that the deleted segment may contain yet another locus, here designated HPE6, which, when disrupted, can lead to brain malformations within the HPE spectrum.


REFERENCES

  1. Lehman, N. L., Zaleski, D. H., Sanger, W. G., Adickes, E. D. Holoprosencephaly associated with an apparent isolated 2q37.1-2q37.3 deletion. Am. J. Med. Genet. 100: 179-181, 2001. [PubMed: 11343300] [Full Text: https://doi.org/10.1002/ajmg.1245]


Creation Date:
Victor A. McKusick : 5/15/2001

Edit History:
carol : 01/25/2011
alopez : 3/19/2004
carol : 5/15/2001