Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib

Ophthalmic Genetics
Maha MameeshKhalid Al Thihli

Abstract

To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region. An Omani family with three siblings diagnosed with GSD-1b presented with ocular manifestations of progressive visual impairment and diminution of night vision. All siblings underwent a standard ophthalmic and clinical genetic evaluation. Full sequencing of the MFRP and SLC37A4 genes and haplotype analysis was carried out. The three children (2F:1M) aged 13, 17, and 18 years were born to consanguineous parents. Their best-corrected visual acuity ranged from 20/60 to 20/15. Ophthalmic exam revealed bilateral optic disc drusen, foveoschisis, and pigmentary retinopathy, hyperopia of +12 to +15.5 diopters, and decreased axial length (15.8-16.39 mm) in all affected siblings. Full-field electroretinography showe...Continue Reading

References

Mar 1, 1983·Archives of Ophthalmology·M SpitznasJ B Bateman
Jul 1, 1999·The Journal of Asthma : Official Journal of the Association for the Care of Asthma·S RietveldE H Dooijes
Aug 25, 2000·Indian Journal of Pediatrics·I N SaltikG Dinler
Mar 27, 2001·Biochemical and Biophysical Research Communications·M Katoh
May 5, 2001·Genome Research·P C Ng, S Henikoff
Apr 13, 2002·Current Molecular Medicine·Peter J Roach
Jun 25, 2005·Proceedings of the National Academy of Sciences of the United States of America·Olof H SundinEthan M Weinberg
Nov 24, 2006·Investigative Ophthalmology & Visual Science·Md Nawajes A MandalRadha Ayyagari
Jun 7, 2007·World Journal of Gastroenterology : WJG·Hasan Ozen
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Aug 26, 2010·Current Opinion in Critical Care·John R ProwleRinaldo Bellomo
May 9, 2012·Japanese Journal of Ophthalmology·Itsuka MatsushitaAkihiko Tawara

❮ Previous
Next ❯

Citations

May 17, 2019·Journal of Inherited Metabolic Disease·Carlota PascoalPaula A Videira
Oct 1, 2020·Acta Ophthalmologica·Elena LangChristina Gerth-Kahlert
Jun 5, 2018·Journal of Ophthalmology·Pedro C CarricondoSayoko E Moroi

❮ 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.