SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation

Journal of Human Genetics
Jung Min KoTae-Joon Cho

Abstract

SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene. Only 19 patients with mutation-confirmed SOFT syndrome have been reported to date, all of whom carried homozygous variants that were strongly associated with consanguineous marriages. We report an 8.5-year-old boy with SOFT syndrome showing primordial dwarfism, no effect of growth-hormone therapy and skeletal dysplasia. This is the first report of compound heterozygous variants in POC1A, one previously reported and the other novel. A characteristic skeletal manifestation is reported.

References

Jun 27, 1997·American Journal of Medical Genetics·M J AmarB G Kousseff
Jan 20, 2009·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Nicholas L RiderKevin A Strauss
May 8, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jonathan L Tobin, Philip L Beales
Oct 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Murim ChoiRichard P Lifton
Dec 17, 2009·The Journal of Cell Biology·Chad G PearsonMark Winey
Jul 31, 2012·American Journal of Human Genetics·Ranad ShaheenFowzan S Alkuraya
Jul 15, 2015·Human Molecular Genetics·Asuman KoparirMustafa Ozen
Sep 4, 2015·Journal of Molecular Endocrinology·Jian-Hua ChenInês Barroso
Sep 17, 2015·American Journal of Medical Genetics. Part a·Jimena Barraza-GarcíaKaren E Heath

❮ Previous
Next ❯

Citations

Aug 19, 2017·European Journal of Endocrinology·Elisa GiorgioAlfredo Brusco
Dec 21, 2018·American Journal of Medical Genetics. Part a·Ken SaidaNaomichi Matsumoto
Apr 15, 2017·Current Osteoporosis Reports·Michael B Bober, Andrew P Jackson

❮ 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.