A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

Autor: Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, 11211, USA., Tangshewinsirikul C; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, 02215, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA., Yefet D; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel., Quint A; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel., Weiden T; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel., Brownstein Z; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 6997801, Israel., Macarov M; Department of Genetics and Metabolic Diseases, Hadassah Medical Center, Jerusalem, 91120, Israel., Davidov B; Department of Medical Genetics, Rabin Medical Center, Petah Tikva, 49100, Israel., Pappas J; Department of Pediatrics, New York University School of Medicine, New York, NY, 10016, USA., Rabin R; Department of Pediatrics, New York University School of Medicine, New York, NY, 10016, USA., Kenna MA; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA., Oza AM; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA., Lafferty K; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.; Maine Medical Center, Scarborough, ME, 04074, USA., Amr SS; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Rehm HL; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA., Frees K; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA., Nishimura C; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA., Luo M; The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Farra C; Medical Genetics Unit, American University of Beirut Medical Center, AUBMC, 1107 2020, Beirut, Lebanon., Morton CC; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Manchester Centre for Audiology and Deafness, School of Health Sciences, The University of Manchester, Manchester, M13 9PL, UK., Scher SY; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, 11211, USA., Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, 11211, USA., Avraham KB; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 6997801, Israel. karena@tauex.tau.ac.il., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu., Shen J; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA. jshen5@bwh.harvard.edu.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA. jshen5@bwh.harvard.edu.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA. jshen5@bwh.harvard.edu.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jun; Vol. 29 (6), pp. 988-997. Date of Electronic Publication: 2021 Jan 04.

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Autor: Hirsch Y; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA., Zeevi DA; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel., Lam BL; 3Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL USA., Scher SY; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA., Bringer R; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel., Cherki B; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel., Cohen CC; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel., Muallem H; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel., Chiang JP; Molecular Vision Laboratory, Hillsboro, OR USA., Pantrangi M; PreventionGenetics, Marshfield, WI 54449 USA., Ekstein J; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA., Johansson MM; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA.

Publikováno v: Human genome variation [Hum Genome Var] 2019 Sep 12; Vol. 6, pp. 45. Date of Electronic Publication: 2019 Sep 12 (Print Publication: 2019).