An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

American Journal of Medical Genetics. Part a
Keiko ShimojimaToshiyuki Yamamoto

Abstract

Patients with microdeletions in the 19p13.2 chromosomal region show developmental delays, overgrowth, and distinctive features with big head appearances. These manifestations are now recognized as Sotos syndrome-like features (Sotos syndrome 2) or Malan syndrome. We identified three female patients with 19p13.2 deletions involving NFIX, a gene responsible for Malan syndrome. We compared the genotypic and phenotypic data of these patients with those of the patients previously reported. The most of the clinical features were found to overlap; however, Chiari malformation type I was observed in two of the three patients evaluated in this study. Because Chiari malformation type I has never been reported in the patients with NSD1-related Sotos syndrome, this finding indicates the possible role of 19p13.2 deletion in patients with mimicking features of Sotos syndrome but have negative NSD1 testing results.

References

Aug 9, 2005·American Journal of Medical Genetics. Part a·Margaret P AdamEugene H Hoyme
Feb 14, 2009·American Journal of Medical Genetics. Part a·Daniel R JensenMarci M Lesperance
Oct 21, 2009·American Journal of Medical Genetics. Part a·Philippe A LysyCatherine Sibille
Jun 24, 2010·European Journal of Medical Genetics·Nathalie Van der AaR Frank Kooy
Jul 9, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michelle DolanBetsy Hirsch
Jul 22, 2010·European Journal of Human Genetics : EJHG·Maria C BonagliaOrsetta Zuffardi
May 20, 2011·American Journal of Medical Genetics. Part a·Keiko ShimojimaToshiyuki Yamamoto
Jul 30, 2011·The Journal of Comparative Neurology·Michael PiperLinda J Richards
Oct 14, 2011·American Journal of Medical Genetics. Part a·Natalie M GallantFabiola Quintero-Rivera
Feb 4, 2012·Journal of Human Genetics·Yuriko YonedaNaomichi Matsumoto
Mar 16, 2012·American Journal of Medical Genetics. Part a·Giuseppe MarangiGiovanni Neri
Mar 16, 2013·American Journal of Medical Genetics. Part a·Manjunath NimmakayaluOleg A Shchelochkov
Jun 26, 2014·Molecular Cytogenetics·Abdelhafid NatiqAbdelaziz Sefiani

❮ Previous
Next ❯

Citations

Jan 18, 2018·American Journal of Medical Genetics. Part a·Tojo NakayamaShinichi Hirose
Jun 14, 2018·Human Mutation·Manuela PrioloRaoul C Hennekam
Feb 13, 2016·PloS One·Chloe LaneMegan Freeth
Dec 1, 2017·European Journal of Human Genetics : EJHG·Aurélien TrimouilleSébastien Moutton
Oct 2, 2019·Molecular Genetics & Genomic Medicine·Fernanda T BelluccoMaria Isabel Melaragno

❮ 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.