Evidence for genetic heterogeneity in X-linked congenital stationary night blindness

American Journal of Human Genetics
K M BoycottN T Bech-Hansen

Abstract

X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by disturbed or absent night vision; its clinical features may also include myopia, nystagmus, and impaired visual acuity. X-linked CSNB is clinically heterogeneous, and it may also be genetically heterogeneous. We have studied 32 families with X-linked CSNB, including 11 families with the complete form of CSNB and 21 families with the incomplete form of CSNB, to identify genetic-recombination events that would refine the location of the disease genes. Critical recombination events in the set of families with complete CSNB have localized a disease gene to the region between DXS556 and DXS8083, in Xp11.4-p11.3. Critical recombination events in the set of families with incomplete CSNB have localized a disease gene to the region between DXS722 and DXS8023, in Xp11.23. Further analysis of the incomplete-CSNB families, by means of disease-associated-haplotype construction, identified 17 families, of apparent Mennonite ancestry, that share portions of an ancestral chromosome. Results of this analysis refined the location of the gene for incomplete CSNB to the region between DXS722 and DXS255, a distance of 1.2 Mb. Genetic and clin...Continue Reading

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Citations

Nov 2, 2005·Mammalian Genome : Official Journal of the International Mammalian Genome Society·N Torben Bech-HansenC Cairine Logan
Mar 5, 2004·Survey of Ophthalmology·Ian M MacDonaldMaria A Musarella
Aug 6, 2002·Survey of Ophthalmology·Sascha FauserFrank Schüttauf
Nov 15, 2002·Survey of Ophthalmology·Edward Chaum, Mark P Hatton
Jun 8, 2001·Progress in Retinal and Eye Research·J K McBeeD R Pepperberg
Jan 4, 2001·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·G G Celesia
May 18, 2005·Proceedings of the National Academy of Sciences of the United States of America·Ariana Hemara-WahanuiMarion A Maw
Apr 29, 2008·Experimental Eye Research·Suguru ShiratoLaura J Frishman
Jan 15, 2008·Survey of Ophthalmology·Isabelle AudoAnthony T Moore
Dec 20, 2005·Veterinary Ophthalmology·Catherine NunneryKurt L Zimmerman
May 3, 2006·Biochemical and Biophysical Research Communications·Jun Wei, Gwynneth P Hemmings
Dec 12, 2012·Biochimica Et Biophysica Acta·Thomas Stockner, Alexandra Koschak
Sep 9, 2006·American Journal of Human Genetics·Christina ZeitzWolfgang Berger
Feb 11, 2015·Japanese Journal of Ophthalmology·Yozo Miyake, Kazushige Tsunoda
Jul 23, 2011·PloS One·Austin S JelcickNeena B Haider
Mar 19, 2008·American Journal of Medical Genetics. Part a·Noelle C OrtonN Torben Bech-Hansen
Jul 10, 2019·Documenta Ophthalmologica. Advances in Ophthalmology·Kazushige TsunodaTakeshi Iwata
Jun 2, 2018·BioMed Research International·D M WaldnerW K Stell
May 7, 2014·Biochimica Et Biophysica Acta·Verena BurtscherAlexandra Koschak

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