Details

Autor(en) / Beteiligte

• GAL, A
• SCHINZEL, A
• ORTH, U
• FRASER, N. A
• MOLLICA, F
• CRAIG, I. W
• KRUSE, T
• MÄCHLER, M
• NEUGEBAUER, M
• BLEEKER-WAGEMAKERS, L. M

Titel

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

Ist Teil von

• Human genetics, 1989-03, Vol.81 (4), p.315-318

Ort / Verlag

Heidelberg: Springer

Erscheinungsjahr

1989

Quelle

MEDLINE

Beschreibungen/Notizen

• Congenital stationary night blindness is characterized disturbed or absent night vision that is always present at or shortly after birth and nonprogressive. The X-linked form of the disease (CSNBX; McKusick catalog no. 31050) differs from the autosomal types in that the former is frequently associated with myopia. X-chromosome-specific polymorphic DNA markers were used to carry out linkage analysis in three European families segregating for CSNBX. Close linkage without recombination was found between the disease locus and the anonymous locus DXS7, mapped to Xp11.3, assigning the mutation to the proximal short arm of the X chromosome. Linkage data obtained with markers flanking DXS7 provided further support for this localization of the gene locus. Thus, in addition to retinitis pigmentosa and Norrie disease, CSNBX represents the third well-known hereditary eye disease the locus of which is mapped on the proximal Xp and closely linked to DXS7.