Development of a 1.4-Mb BAC/PAC Contig and Physical Map within the Critical Region for Complete X-Linked Congenital Stationary Night Blindness in Xp11.4

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

“…The minimal region for CSNB1 is defined by the crossovers seen in patients B1-2006 (distal limit), and P23.340.V.1 and P520.V.29 (proximal limit) from families B1, P23 and P520 (refs 12,28,29, respectively). The relative position of all markers was confirmed by hybrid and physical mapping 14 nucleotide changes in eight other families with complete CSNB are presumed missense mutations that in seven instances lead to the substitution of a conserved residue; four are predicted to change a conserved leucine codon to a glutamine or proline codon (Table 1, Figs 3b and 5d). In three additional families, we detected nucleotide insertions that we predict add either seven or three amino acids (Table 1, Figs 3a and 5d).…”