Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

American Journal of Medical Genetics. Part a
David D WeaverRobert J Desnick

Abstract

Focal facial dermal dysplasias (FFDD) are characterized by congenital bitemporal or preauricular atrophic skin lesions, and either autosomal dominant or autosomal recessive inheritance. Setleis syndrome (SS), FFDD type III, is a severe form of FFDD with the ectodermal lesions plus other striking facial features. Autosomal recessive nonsense and frameshift mutations in TWIST2 have been found to cause SS in some but not all individuals. Here, we report on four unrelated individuals, one with an unclassified FFDD and the other three with classic SS. Chromosomal microarray analyses revealed unique copy number variants of 1p36 in two individuals with duplications at 1p36.22p36.21 and one with a triplication at 1p36.22p36.21. The fourth patient had normal chromosomes by microarray analysis. All four patients had normal TWIST2 exonic sequences. We propose that a dosage effect of one or more of the 30 genes in the 1.3 Mb 1p36.22p36.21 region of overlap is responsible for FFDD/SS manifestations in some individuals, and this mechanism would be inherited as an autosomal dominant trait. In patients with no duplication/triplication of the 1p36.22p36.21 region and no mutations in TWIST2, there are mutation(s) in one of the 30 genes in this r...Continue Reading

References

Oct 1, 1992·Journal of the American Academy of Dermatology·D C Kowalski, N A Fenske
Aug 1, 1991·Journal of the American Academy of Dermatology·V Di LerniaA Patrizi
Apr 1, 1991·Acta Paediatrica Japonica; Overseas Edition·S MatsumotoY Narisawa
Nov 1, 1989·American Journal of Medical Genetics·R D ClarkS Seto
May 1, 1988·Journal of the American Academy of Dermatology·M L MagidN B Esterly
Aug 1, 1987·American Journal of Diseases of Children·R W MarionM M Cohen
Apr 1, 1973·Archives of Dermatology·A H McGeoch, W B Reed
May 1, 1971·The British Journal of Dermatology·N E Jensen
Apr 1, 1995·Clinical Dysmorphology·S Garcia-Minaur, A Linares
May 22, 1995·American Journal of Medical Genetics·M MasunoY Kuroki
Jul 3, 1995·American Journal of Medical Genetics·M TsukaharaS Furukawa
May 1, 1994·The British Journal of Dermatology·K A Ward, C Moss
Oct 1, 1996·The British Journal of Dermatology·Y K TayW L Weston
Jan 8, 1998·Archives of Dermatology·B A DroletN B Esterly
Apr 9, 2001·Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery·A TanabeY Ogawa
Sep 5, 2002·American Journal of Medical Genetics·Julie McGaughran, Salim Aftimos
Mar 15, 2006·European Journal of Medical Genetics·Trine PrescottOla Tallerås
Jun 26, 2008·Pediatric Dermatology·Michael S KrathenGlen H Crawford
Mar 18, 2009·American Journal of Medical Genetics. Part a·Luitgard M Graul-NeumannAndreas Tzschach
Aug 10, 2010·American Journal of Human Genetics·Turgut TukelRobert J Desnick
Apr 21, 2012·Differentiation; Research in Biological Diversity·Nathan J VanDusen, Anthony B Firulli
Nov 20, 2012·Human Molecular Genetics·Anne M SlavotinekRobert J Desnick
Oct 16, 2013·Indian Journal of Pediatrics·Katta Mohan GirishaKapaettu Satyamoorthy
Feb 4, 2014·Pediatric Neurology·Lucio GiordanoFrancesca Faravelli

❮ Previous
Next ❯

Citations

May 20, 2016·American Journal of Medical Genetics. Part a·Beatrice De MariaRaoul C Hennekam
Jul 1, 2017·Journal of Medical Genetics·Beom Hee LeeRobert J Desnick
Dec 22, 2017·Journal of Human Genetics·Beom Hee LeeRobert J Desnick
Oct 21, 2016·Clinical Dysmorphology·Akif AyazUmit Celik
Aug 28, 2015·Journal of Human Genetics·Beom Hee LeeRobert J Desnick
Mar 7, 2021·International Journal of Environmental Research and Public Health·Noe E CrespoCarmen L Cadilla

❮ 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.