Tags

Type your tag names separated by a space and hit enter

Molecular genetic and ocular findings in patients with holt-oram syndrome.
Ophthalmic Genet 2005; 26(1):1-8OG

Abstract

PURPOSE

The autosomal dominant Holt-Oram syndrome (HOS) is characterized by upper limb and cardiac septal defects. Mutations of the TBX5 gene have been identified as the underlying gene defect in HOS. Embryonic expression of TBX5 has been found in the human retina. This is the first report of ocular findings in two unrelated families with mutations in the TBX5 gene.

METHODS

Six living persons affected with HOS and 10 unaffected family members were subjected to mutation analysis and complete ophthalmological examination, including electrophysiological examinations (EOG and flash ERG).

RESULTS

A heterozygous single base-pain substitution in exon 5 (408C --> A) was detected in all affected patients. All examined affected patents were ophthalmological asymptomatic with normal EOG. A scotopic elongated b-wave latency was found in affected family members who were older than 35 years. The ERG was normal in the young patients.

CONCLUSIONS

Haploinsufficiency of TBX5 alters the dorsal-ventral polarity in developing eye vesicles without amy detected functional loss in human. Slight ERG abnormalities later in life may be a result of changes induced by the inner ganglion cell layer in the inner nuclear layer.

Authors+Show Affiliations

Department of Opthalmology, Martin-Luther-University, Halle, Germany. cup-gk@t-online.deNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15823919

Citation

Gruenauer-Kloevekorn, Claudia, et al. "Molecular Genetic and Ocular Findings in Patients With Holt-oram Syndrome." Ophthalmic Genetics, vol. 26, no. 1, 2005, pp. 1-8.
Gruenauer-Kloevekorn C, Reichel MB, Duncker GI, et al. Molecular genetic and ocular findings in patients with holt-oram syndrome. Ophthalmic Genet. 2005;26(1):1-8.
Gruenauer-Kloevekorn, C., Reichel, M. B., Duncker, G. I., & Froster, U. G. (2005). Molecular genetic and ocular findings in patients with holt-oram syndrome. Ophthalmic Genetics, 26(1), pp. 1-8.
Gruenauer-Kloevekorn C, et al. Molecular Genetic and Ocular Findings in Patients With Holt-oram Syndrome. Ophthalmic Genet. 2005;26(1):1-8. PubMed PMID: 15823919.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular genetic and ocular findings in patients with holt-oram syndrome. AU - Gruenauer-Kloevekorn,Claudia, AU - Reichel,Martin B, AU - Duncker,G I W, AU - Froster,Ursula G, PY - 2005/4/13/pubmed PY - 2005/5/4/medline PY - 2005/4/13/entrez SP - 1 EP - 8 JF - Ophthalmic genetics JO - Ophthalmic Genet. VL - 26 IS - 1 N2 - PURPOSE: The autosomal dominant Holt-Oram syndrome (HOS) is characterized by upper limb and cardiac septal defects. Mutations of the TBX5 gene have been identified as the underlying gene defect in HOS. Embryonic expression of TBX5 has been found in the human retina. This is the first report of ocular findings in two unrelated families with mutations in the TBX5 gene. METHODS: Six living persons affected with HOS and 10 unaffected family members were subjected to mutation analysis and complete ophthalmological examination, including electrophysiological examinations (EOG and flash ERG). RESULTS: A heterozygous single base-pain substitution in exon 5 (408C --> A) was detected in all affected patients. All examined affected patents were ophthalmological asymptomatic with normal EOG. A scotopic elongated b-wave latency was found in affected family members who were older than 35 years. The ERG was normal in the young patients. CONCLUSIONS: Haploinsufficiency of TBX5 alters the dorsal-ventral polarity in developing eye vesicles without amy detected functional loss in human. Slight ERG abnormalities later in life may be a result of changes induced by the inner ganglion cell layer in the inner nuclear layer. SN - 1381-6810 UR - https://www.unboundmedicine.com/medline/citation/15823919/Molecular_genetic_and_ocular_findings_in_patients_with_holt_oram_syndrome_ L2 - http://www.tandfonline.com/doi/full/10.1080/13816810590918073 DB - PRIME DP - Unbound Medicine ER -