Shi,Wei, Alamo-Bethencourt,Victor, Mayer,Wolfgang, Winkens,Huub J., Ropers,Hans-Hilger, ...
Choroideremia (CHM) is a hereditary eye disease caused by mutations in the X-linked CHM gene. Disruption of the Chm gene in mice resulted in prenatal death of Chm−/Y males and Chm−/Chm+ females...
Shi, Wei, Alamo-Bethencourt, Victor, Mayer, Wolfgang, Winkens, Huub J., Ropers, Hans-Hilger, ...
Choroideremia (CHM) is a hereditary eye disease caused by mutations in the X-linked CHM gene. Disruption of the Chm gene in mice resulted in prenatal death of Chm−/Y males and Chm−/Chm+ females...
Wissinger,Bernd, Van Driel,Marc A., Hoefsloot,Lies H., De Wijs,Ilse J., ...
Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...
Wissinger, Bernd, Van Driel, Marc A., Hoefsloot, Lies H., De Wijs, Ilse J., ...
Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...
Maugeri, Alessandra, Flothmann, Kris, Hemmrich, Nadine, Ingvast, Sofie, Jorge, Paula, Paloma, Eva, ...
Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, ...
We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We...
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., ...
The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or...
Roepman, Ronald, Letteboer, Stef J. F., Arts, Heleen H., Lu, Xinrong, Krieger, Elmar, ...
RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator). Mutations in RPGRIP1 lead to...
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.1
Shiloh, Yosef, Litvak, Gilad, Ziv, Yael, Lehner, Thomas, Sandkuyl, Lodewijk, Hildesheimer, Minka, ...
X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness. The ADFN mutation probably affects the...
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
Cremers, Frans P. M., Sankila, Eeva-Marja, Brunsmann, Frank, Jay, Marcelle, Jay, Barrie, Wright, Alan, ...
Making use of the p1bD5 probe (DXS165), we have isolated several markers from the choroideremia locus by chromosomal jumping, preparative field-inversion gel electrophoresis, and cloning of a...
Van Wijk, Erwin, Pennings, Ronald J. E., Te Brinke, Heleen, Claassen, Annemarie, Yntema, Helger G., Hoefsloot, Lies H., ...
The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa. Since mutation...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, ...
We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We...
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., ...
The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or...
Roepman, Ronald, Letteboer, Stef J. F., Arts, Heleen H., Lu, Xinrong, Krieger, Elmar, ...
RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator). Mutations in RPGRIP1 lead to...
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.1
Shiloh, Yosef, Litvak, Gilad, Ziv, Yael, Lehner, Thomas, Sandkuyl, Lodewijk, Hildesheimer, Minka, ...
X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness. The ADFN mutation probably affects the...
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
Cremers, Frans P. M., Sankila, Eeva-Marja, Brunsmann, Frank, Jay, Marcelle, Jay, Barrie, Wright, Alan, ...
Making use of the p1bD5 probe (DXS165), we have isolated several markers from the choroideremia locus by chromosomal jumping, preparative field-inversion gel electrophoresis, and cloning of a...
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E. J., ...
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for ∼45% of LCA cases. We localized...
Central areolar choroidal dystrophy associated with dominantly inherited drusen
Klevering, B Jeroen, Van Driel, Marc, Deutman, August F, ...
Aim: To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly inherited drusen.
Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, Van Der Zwaag, Bert, Venselaar, Hanka, ...
In a large consanguineous family of Turkish origin, genome-wide homozygosity mapping revealed a locus for recessive nonsyndromic hearing impairment on chromosome 14q24.3–q34.12. Fine mapping with...