Nance-Horan Syndrome: Linkage Analysis in a Family from The Netherlands

Mental retardation in Nance-Horan syndrome: Clinical and neuropsychological assessment in four families

“…The pathogenesis of NHS remains unknown. Linkage studies have placed the NHS gene in the Xp22.31-p22.13 region [Stambolian et al, 1990;Zhu et al, 1990;Bergen et al, 1994;Toutain et al, 1997]. Mild or moderate intellectual handicap was mentioned incidentally in seven NHS patients [Horan and Billson, 1974;Van Dorp and Delleman, 1979;Bixler et al, 1984;Lewis, 1989;Walpole et al, 1990].…”

Characterization and Physical Mapping in Human and Mouse of a Novel RING Finger Gene in Xp22

“…The study of patients with these deletions, combined with linkage analysis of affected pedigrees, has led to the localization and subsequent positional cloning of many disease genes in and telomeric of Xp22, e.g., genes for X-linked ocular albinism (OA1; Bassi et al, 1995), X-linked chondrodysplasia punctata (CDPX1; Franco et al, 1995), Kallman syndrome (KAL1; Franco et al, 1991), X-linked ichtyosis (steroid sulfatase, STS; Ballabio et al, 1987), and amelogenesis imperfecta (Amelogenin, AMELX; Lagerstrom et al, 1991). The loci for other X-linked inherited conditions, such as oral-facial-digital syndrome type I (OFD1; Feather et al, 1997), late onset spondyloepiphyseal dysplasia (SEDL; Bernard et al, 1996), craniofrontonasal dysplasia (CFND; Feldman et al, 1997), NanceHoran syndrome (NHS; Bergen et al, 1994); and Opitz G syndrome (OGS1; Robin et al, 1995), were mapped to this region by linkage analysis and study of patients with chromosomal rearrangements.…”

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

“…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.…”