Molecular and clinical characterization of a patient with a chromosome 4p deletion, Wolf-Hirschhorn syndrome, and congenital glaucoma

Wolf-Hirschhorn syndrome is a developmental disorder associated with hemizygous deletion of the distal short arm of chromosome 4. We have identified a patient affected with Wolf-Hirschhorn syndrome and early onset glaucoma. Five other patients with Wolf-Hirschhorn syndrome and early onset glaucoma o...

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Bibliographic Details
Published in:Ophthalmic genetics 2001, Vol.22 (1), p.35-41
Main Authors: Finzi, Simone, Pinto, Carla F., Wiggs, Janey L.
Format: Article
Language:English
Subjects:
Chromosome Deletion
Chromosome Fragility
Chromosomes, Human, Pair 4
Craniofacial Abnormalities - complications
Craniofacial Abnormalities - genetics
DNA - analysis
Facies
Fatal Outcome
Female
Genetic Markers
Glaucoma - complications
Glaucoma - congenital
Glaucoma - genetics
Growth Disorders - complications
Growth Disorders - genetics
Humans
Infant, Newborn
Intellectual Disability - complications
Intellectual Disability - genetics
Karyotyping
Microsatellite Repeats
Molecular Biology
Seizures
Syndrome
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Summary:Wolf-Hirschhorn syndrome is a developmental disorder associated with hemizygous deletion of the distal short arm of chromosome 4. We have identified a patient affected with Wolf-Hirschhorn syndrome and early onset glaucoma. Five other patients with Wolf-Hirschhorn syndrome and early onset glaucoma or ocular anomalies associated with early onset glaucoma have been previously described, suggesting that the association with Wolf-Hirschhorn syndrome is not coincidental. The infrequent association of early onset glaucoma suggests that the chromosomal region commonly deleted in Wolf-Hirschhorn patients does not contain genes responsible for early onset glaucoma. In this study, we performed a molecular characterization of the deleted chromosome 4 to determine the extent of the deletion in an attempt to begin to identify the chromosomal region responsible for the associated glaucoma. Using microsatellite repeat markers located on 4p, we determined that the deletion spanned a 60-cM region including the minimal Wolf-Hirschhorn region. The proximal breakpoint occurred between markers D4S3045 and D4S2974. These results support the hypothesis that patients with Wolf-Hirschhorn syndrome and early onset glaucoma may have large deletions of 4p that include a gene(s) that may be responsible for a dominant form of congenital glaucoma.
ISSN:1381-6810
1744-5094
DOI:10.1076/opge.22.1.35.2234