PUBLICATION
Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome
- Authors
- Schorderet, D.F., Nichini, O., Boisset, G., Polok, B., Tiab, L., Mayeur, H., Raji, B., de la Houssaye, G., Abitbol, M.M., and Munier, F.L.
- ID
- ZDB-PUB-080422-13
- Date
- 2008
- Source
- American journal of human genetics 82(5): 1178-1184 (Journal)
- Registered Authors
- Boisset, Gaëlle, Polok, Bozena, Schorderet, Daniel
- Keywords
- none
- MeSH Terms
-
- Aged
- Animals
- Consanguinity
- Ear/abnormalities*
- Embryo, Mammalian/metabolism
- Embryo, Nonmammalian/metabolism
- Eye Abnormalities/embryology
- Eye Abnormalities/genetics*
- Female
- Fetus/metabolism
- Homeodomain Proteins/biosynthesis
- Homeodomain Proteins/genetics*
- Humans
- Male
- Mice
- Middle Aged
- Molecular Sequence Data
- Organ Specificity
- Pedigree
- Syndrome
- Transcription Factors/biosynthesis
- Transcription Factors/genetics*
- Zebrafish/embryology
- Zebrafish/metabolism
- PubMed
- 18423520 Full text @ Am. J. Hum. Genet.
Citation
Schorderet, D.F., Nichini, O., Boisset, G., Polok, B., Tiab, L., Mayeur, H., Raji, B., de la Houssaye, G., Abitbol, M.M., and Munier, F.L. (2008) Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome. American journal of human genetics. 82(5):1178-1184.
Abstract
Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguineous family. This syndrome is characterized by ophthalmic anomalies (microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy) and a particular cleft ear lobule. Linkage analysis and mutation screening revealed in the first exon of the NKX5-3 gene a homozygous 26 nucleotide deletion, generating a truncating protein that lacked the complete homeodomain. Morpholino knockdown expression of the zebrafish nkx5-3 induced microphthalmia and disorganization of the developing retina, thus confirming that this gene represents an additional member implicated in axial patterning of the retina.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping