A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32

American Journal of Human Genetics
D A BessantS S Bhattacharya

Abstract

Congenital microphthalmia (CMIC) (OMIM 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated CMIC may be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. On the basis of a whole-genome linkage analysis, we have mapped the first locus for isolated CMIC, in a five-generation consanguineous family with autosomal recessive inheritance, to chromosome 14q32. All affected individuals in this family have bilateral CMIC. Linkage analysis gave a maximum two-point LOD score of 3.55 for the marker D14S65. Surrounding this marker is a region of homozygosity of 7.3 cM, between the markers D14S987 and D14S267, within which the disease gene is predicted to lie. The genes for several eye-specific transcription factors are located on human chromosome 14q and in the syntenic region of mouse chromosome 12. However, both CHX10 (14q24.3), mutations of which give rise to CMIC in mouse models, and OTX2 (14q21-22) can be excluded as candidates for autosomal recessive congenital microphthalmia (arCMIC), since they map outside the critical disease region defined by recombination events. This suggests that arCMIC is caused by defects in a novel developmental gene that may be im...Continue Reading

References

Aug 1, 1992·Archives of Ophthalmology·B A MillerH Capo
Nov 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·K Park, M L Atchison
May 1, 1985·Archives of Ophthalmology·J H ElliottM Garber
Feb 1, 1984·Journal of Medical Genetics·T MorossH A Gardner
Jul 1, 1995·Trends in Genetics : TIG·I Hanson, V Van Heyningen
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Sep 1, 1994·Journal of Medical Genetics·E M VingoloM R Pannarale
Jul 1, 1994·Genomics·K KasturyE Boncinelli
Feb 1, 1994·American Journal of Medical Genetics·J ZlotogoraD BenEzra
Aug 1, 1993·Journal of Medical Genetics·M Warburg
Jan 1, 1996·Developmental Genetics·J Graw
Jan 1, 1996·Human Molecular Genetics·C FreundR R McInnes
Oct 1, 1996·International Journal of Epidemiology·B KällénJ Harris
May 1, 1997·Nature Genetics·C F Inglehearn
May 1, 1997·Nature Genetics·T KubotaD H Ledbetter

❮ Previous
Next ❯

Citations

Mar 5, 2004·Survey of Ophthalmology·Ian M MacDonaldMaria A Musarella
Nov 2, 2006·Cornea·Sathish SrinivasanStephen B Kaye
Jul 22, 1999·The British Journal of Ophthalmology·D A BessantS S Bhattacharya
Feb 25, 2003·The British Journal of Ophthalmology·S J HornbyC E Gilbert
Nov 28, 2007·Orphanet Journal of Rare Diseases·Amit S Verma, David R Fitzpatrick
May 27, 2005·Current Opinion in Genetics & Development·David R Fitzpatrick, Veronica van Heyningen
Oct 18, 2000·American Journal of Human Genetics·L MorléP Edery
Dec 30, 2014·European Journal of Medical Genetics·Lucia MauriSilvana Penco
Dec 3, 2011·American Journal of Otolaryngology·Seong-Cheon BaeShi-Nae Park
Jan 18, 2017·European Journal of Human Genetics : EJHG·Rose RichardsonMariya Moosajee
Aug 23, 2005·Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi·Tsunenori HirayamaOsamu Fujino
Aug 10, 2000·Nature Genetics·E Ferda PercinR R McInnes
Aug 10, 2011·Current Opinion in Ophthalmology·Tanya M Bardakjian, Adele Schneider
Jun 21, 2014·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Young-Bin SongR Shane Tubbs
Oct 26, 1999·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·E I Traboulsi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.