An Xp22.1-p22.2 YAC Contig Encompassing the Disease Loci for RS, KFSD, CLS, HYP and RP15: Refined Localization of RS

Identification and Characterization of a Novel Serine– Threonine Kinase Gene from the Xp22 Region

“…Examples are the identification of mutations involving a serine-threonine kinase gene (Rsk-2), also mapped in the Xp22.2 region, in patients affected by Coffin-Lowry syndrome (Trivier et al, 1996) and the recent report of a serine-threonine kinase responsible for Peutz-Jeghers syndrome (Jenne et al, 1998). A number of human genetic disorders have been mapped to the Xp22 region, and among these, Nance-Horan syndrome (NH, OMIM 302350) (Bergen et al, 1994;Stambolian et al, 1990;Toutain et al, 1997;Van de Vosse et al, 1996), oral-facial-digital syndrome type 1 (OFD1, OMIM 311200) (Feather et al, 1997), and a novel locus for nonsyndromic sensorineural deafness (DFN6) (del …”

“…This map spans the critical region of several diseases, including keratosis follicularis spinulosa decalvans (KFSD, OMIM 308800) (Oosterwijk et al, 1997;Van de Vosse et al, 1996), Nance-Horan syndrome (NH, OMIM 302350) (Bergen et al, 1994;Stambolian et al, 1990;Toutain et al, 1997), X-linked dominant conerod degeneration (RP15) (McGuire et al, 1995), oralfacial-digital syndrome type 1 (OFD1, OMIM 311200) (Feather et al, 1997), craniofrontonasal syndrome (CFNS, OMIM 304110) (Feldman et al, 1997), and a novel locus for nonsyndromic sensorineural deafness (DFN6) (del Castillo et al, 1996). As a first step toward building a transcription map of this region, we decided to concentrate our efforts on the region between DXS418 and DXS443.…”

Recent Advances in the Molecular Genetics of Hereditary Retinal Dystrophies with Primary Involvement of the Macula

“…The RS locus has been mapped to the distal short arm of the X chromosome [Ives et al, 1970;Wieacker et al, 1983;Alitalo et al, 1987;Weber et al, 1995] and subsequently was narrowed to an interval flanked by DNA markers at loci DXS418 distally and DXS999 proximally [Van de Vosse et al, 1996].…”

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

“…8 Several linkage studies have localised the RS gene to a 1 cM interval DXS418-DXS999/DXS7161 on Xp22. [9][10][11][12][13] This region has further been covered with YAC clones 12,[14][15][16] and a PAC contig. 16 The entire RS candidate region has now also been sequenced by the Sanger Centre, 17 in collaboration with the Retinoschisis Consortium.…”