Four novel RSK2 mutations in females with Coffin-Lowry syndrome

European Journal of Medical Genetics
Dorota JurkiewiczMałgorzata Krajewska-Walasek

Abstract

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant disorder caused by mutations in the RSK2 gene and characterized by moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers in males. Females are usually much more mildly and variably affected thus more difficult to diagnose. In this study, molecular genetic analysis was carried out in four female patients presenting features of Coffin-Lowry syndrome. The probands were sporadic cases with no affected males in their families. The molecular analysis of the RSK2 gene revealed four novel mutations, including two frameshift and one missense mutation identified by sequencing, and one large deletion detected by multiplex ligation-dependent probe amplification (MLPA) analysis. Females exhibited a random X-chromosome inactivation pattern. To our knowledge, this is the first report of applying MLPA in the diagnostics of CLS and the first description of a large deletion in a CLS female. These results support including screening for large rearragements in the genetic analysis of female CLS patients.

References

May 1, 1988·Journal of Medical Genetics·I D Young
Mar 21, 1998·Journal of Medical Genetics·Y J CrowJ B Stephenson
Aug 27, 1998·Journal of Medical Genetics·J P Fryns, E Smeets
May 29, 2002·Clinical Genetics·R J SimensenR E Stevenson
Sep 5, 2002·American Journal of Medical Genetics·Alasdair G W Hunter
Oct 4, 2002·Journal of Medical Genetics·A Hanauer, I D Young
Mar 4, 2003·Pediatrics·Gregg B Nelson, Jin S Hahn
Jan 26, 2005·Brain & Development·John B P StephensonSameer M Zuberi
Jan 26, 2005·Brain & Development·Miki NakamuraMariko Y Momoi
May 13, 2006·American Journal of Medical Genetics. Part a·Yueying WangTian-Jian Chen
Jul 11, 2006·European Journal of Human Genetics : EJHG·Gun Peggy S KnudsenKaren Helene Orstavik
Mar 8, 2007·European Journal of Human Genetics : EJHG·Nisa K RenaultWenda L Greer
Aug 25, 2007·Human Genetics·Patricia Marques PereiraAndré Hanauer

❮ Previous
Next ❯

Citations

Jul 22, 2014·American Journal of Medical Genetics. Part a·Hiromi Koso NishimotoHyung-Goo Kim
Apr 12, 2012·European Journal of Medical Genetics·Jin S Hahn, André Hanauer
Feb 12, 2019·Frontiers in Pediatrics·Ying LvJie Shao
Aug 9, 2019·Movement Disorders Clinical Practice·Ana BrásConceição Bento

❮ 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.