Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Nicole Yin
 + 553 word(s) 553 2020-12-15 07:19:50

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Yin, N. Coffin-Siris Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4815 (accessed on 26 April 2024).
Yin N. Coffin-Siris Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4815. Accessed April 26, 2024.
Yin, Nicole. "Coffin-Siris Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4815 (accessed April 26, 2024).
Yin, N. (2020, December 24). Coffin-Siris Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4815
Yin, Nicole. "Coffin-Siris Syndrome." Encyclopedia. Web. 24 December, 2020.
Coffin-Siris Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/coffin-siris-syndrome

Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.

genetic conditions

1. Introduction

Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most affected individuals have facial features described as coarse. These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. There is a range of facial features seen in people with Coffin-Siris syndrome, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head (microcephaly).

Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present.

2. Frequency

Coffin-Siris syndrome is a rare condition that is diagnosed in females more frequently than in males. Approximately 140 cases have been reported in the medical literature.

3. Causes

Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed.

Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells.

Although it is unclear what effect mutations in these genes have on SWI/SNF complexes, researchers suggest that the mutations result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.

3.1. The Genes Associated with Coffin-Siris Ayndrome

  • ARID1A
  • ARID1B
  • SMARCA4
  • SMARCB1
  • SMARCE1

4. Inheritance

Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, the condition is not usually inherited from an affected parent, but occurs from new (de novo) mutations in the gene that likely occur during early embryonic development.

5. Other Names for This Condition

  • dwarfism-onychodysplasia
  • fifth digit syndrome
  • mental retardation with hypoplastic fifth fingernails and toenails
  • short stature-onychodysplasia

References

  1. Euskirchen G, Auerbach RK, Snyder M. SWI/SNF chromatin-remodeling factors:multiscale analyses and diverse functions. J Biol Chem. 2012 Sep7;287(37):30897-905. doi: 10.1074/jbc.R111.309302.
  2. Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, SnoeckIN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. NatGenet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217.
  3. Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, vanMinderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, VijfhuizenL, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB,Hennekam RC, van Belzen MJ. Coffin-Siris syndrome and the BAF complex:genotype-phenotype study in 63 patients. Hum Mutat. 2013 Nov;34(11):1519-28. doi:10.1002/humu.22394.
  4. Santen GW, Kriek M, van Attikum H. SWI/SNF complex in disorder: SWItching frommalignancies to intellectual disability. Epigenetics. 2012 Nov;7(11):1219-24.doi: 10.4161/epi.22299.
  5. Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, LynchSA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. TheCoffin-Siris syndrome: a proposed diagnostic approach and assessment of 15overlapping cases. Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi:10.1002/ajmg.a.35415.
  6. Schrier Vergano S, Santen G, Wieczorek D, Wollnik B, Matsumoto N, DeardorffMA. Coffin-Siris Syndrome. 2013 Apr 4 [updated 2018 Feb 8]. In: Adam MP, ArdingerHH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK131811/
  7. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T,Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, YamagataT, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T,Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, MatsumotoN. Mutations affecting components of the SWI/SNF complex cause Coffin-Sirissyndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Nicole Yin
View Times: 443
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback