ZFIN ID: ZDB-PUB-080422-13
Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome
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.
Date: 2008
Source: American journal of human genetics   82(5): 1178-1184 (Journal)
Registered Authors: Boisset, Gaƫlle, 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.
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.