Entry - %609408 - HOLOPROSENCEPHALY 8; HPE8 - OMIM

 
ICD+
% 609408

HOLOPROSENCEPHALY 8; HPE8


Cytogenetic location: 14q13     Genomic coordinates (GRCh38): 14:32,900,001-37,400,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q13 Holoprosencephaly 8 609408 2
Phenotypic Series
 


▼ TEXT

For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

▼ Clinical Features

Levin and Surana (1991) described holoprosencephaly in association with an interstitial deletion of chromosome 14q11.1-q13. Parental karyotypes were normal. The white female, born to nonconsanguineous young parents after an uncomplicated pregnancy, showed hypotelorism, lack of nasal bridge, flattened nasal tip with no visible septum, wide midline cleft of lip and hard palate, and ptosis of the left upper eyelid. Axial CT scan of the head was interpreted as showing semilobar holoprosencephaly. The infant died at 8 days of age.

Kamnasaran et al. (2005) reported 6 patients with HPE and interstitial deletions on proximal chromosome 14q: 1 had alobar HPE and 5 had lobar HPE. Other findings included microcephaly, cebocephaly, underdeveloped pituitary gland, hypothyroidism, micrognathia, depressed nasal bridge, iris coloboma, hypertelorism, midface hypoplasia, bilateral cleft lip, respiratory distress, congenital heart defects, and developmental delay.


▼ Cytogenetics

Kamnasaran et al. (2005) reported 6 patients with HPE and interstitial deletions on proximal chromosome 14q, 5 of which were of paternal origin and 1 of maternal origin.


▼ Mapping

Kamnasaran et al. (2005) defined a locus for holoprosencephaly (HPE8) on chromosome 14q13 between markers D14S49 and AFM205XG5, an estimated 2.82-Mb interval, by mapping deletion intervals of affected subjects with proximal chromosome 14q interstitial deletions. Using the deletion intervals of 2 patients with no HPE signs (under the assumption of complete penetrance), the critical region was reduced to an estimated 1.78-Mb interval between markers D14S49 and D14S1014.


▼ REFERENCES

  1. Kamnasaran, D., Chen, C.-P., Devriendt, K., Mehta, L., Cox, D. W. Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Genomics 85: 608-621, 2005. [PubMed: 15820313, related citations] [Full Text]

  2. Levin, S. W., Surana, R. B. Holoprosencephaly associated with 46,XX,del(14)(q11.1q13). (Abstract) Am. J. Hum. Genet. 49 (suppl.): 269 only, 1991.


Creation Date:
Marla J. F. O'Neill : 6/9/2005
Edit History:
carol : 06/22/2015
carol : 6/9/2005

% 609408

HOLOPROSENCEPHALY 8; HPE8


ORPHA: 2162;   DO: 0110879;  


Cytogenetic location: 14q13     Genomic coordinates (GRCh38): 14:32,900,001-37,400,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q13 Holoprosencephaly 8 609408 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Clinical Features

Levin and Surana (1991) described holoprosencephaly in association with an interstitial deletion of chromosome 14q11.1-q13. Parental karyotypes were normal. The white female, born to nonconsanguineous young parents after an uncomplicated pregnancy, showed hypotelorism, lack of nasal bridge, flattened nasal tip with no visible septum, wide midline cleft of lip and hard palate, and ptosis of the left upper eyelid. Axial CT scan of the head was interpreted as showing semilobar holoprosencephaly. The infant died at 8 days of age.

Kamnasaran et al. (2005) reported 6 patients with HPE and interstitial deletions on proximal chromosome 14q: 1 had alobar HPE and 5 had lobar HPE. Other findings included microcephaly, cebocephaly, underdeveloped pituitary gland, hypothyroidism, micrognathia, depressed nasal bridge, iris coloboma, hypertelorism, midface hypoplasia, bilateral cleft lip, respiratory distress, congenital heart defects, and developmental delay.


Cytogenetics

Kamnasaran et al. (2005) reported 6 patients with HPE and interstitial deletions on proximal chromosome 14q, 5 of which were of paternal origin and 1 of maternal origin.


Mapping

Kamnasaran et al. (2005) defined a locus for holoprosencephaly (HPE8) on chromosome 14q13 between markers D14S49 and AFM205XG5, an estimated 2.82-Mb interval, by mapping deletion intervals of affected subjects with proximal chromosome 14q interstitial deletions. Using the deletion intervals of 2 patients with no HPE signs (under the assumption of complete penetrance), the critical region was reduced to an estimated 1.78-Mb interval between markers D14S49 and D14S1014.


REFERENCES

  1. Kamnasaran, D., Chen, C.-P., Devriendt, K., Mehta, L., Cox, D. W. Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Genomics 85: 608-621, 2005. [PubMed: 15820313] [Full Text: https://doi.org/10.1016/j.ygeno.2005.01.010]

  2. Levin, S. W., Surana, R. B. Holoprosencephaly associated with 46,XX,del(14)(q11.1q13). (Abstract) Am. J. Hum. Genet. 49 (suppl.): 269 only, 1991.


Creation Date:
Marla J. F. O'Neill : 6/9/2005

Edit History:
carol : 06/22/2015
carol : 6/9/2005



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 22, 2024