The invention relates to the polynucleotide sequence of the Hydrocephalus-associated gene (Hydin), the polypeptide it encodes and uses therefore. The invention also relates to the mutation in the Hydin gene that is responsible for the development of hydrocephalus. The invention provides for methods of diagnosing hydrocephalus and cilia dysfunction-related disorders.
Identification of a gene and mutation responsible for autosomal recessive congenital hydrocephalus