FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

@article{Piccini1998FACL4AN,
  title={FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.},
  author={Mario Piccini and Francesca Vitelli and Mirella Bruttini and Barbara R Pober and J{\'o}n J{\'o}hannes J{\'o}nsson and Marcello Villanova and Massimo Zollo and Giuseppe Borsani and Andrea Ballabio and Alessandra Renieri},
  journal={Genomics},
  year={1998},
  volume={47 3},
  pages={350-8}
}
We observed a family in which two boys were diagnosed with Alport syndrome, elliptocytosis, and mental retardation and carried a large deletion of the Xq22.3-q23 region, encompassing the COL4A5 gene. This suggests the possibility of a new contiguous gene syndrome. In an attempt to characterize the genes contributing to this complex phenotype, we have isolated a gene encoding a new long-chain acyl-CoA synthetase (FACL4 or LACS4) from the region deleted in these patients. Among several ESTs… CONTINUE READING