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<span>MN1 C-terminal truncation syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/mn1-c-terminal-truncation-syndrome/</span>
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<h1>MN1 C-terminal truncation syndrome</h1>
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<h2>Description</h2>
<section><div class="mp-content"><p><em>MN1</em> C-terminal truncation (MCTT) syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.</p><p>Most people with MCTT syndrome have mild to moderate intellectual disability. Many affected individuals are nonverbal, but some have speech limited to one or two words or communicate using sign language. Most children with this condition have delayed development of motor skills, such as crawling or walking, but are able to walk by age 2 or 3. However, they often need help with fine-motor skills, such as getting dressed or using a fork when eating.</p><p>Individuals with MCTT syndrome often have distinctive facial features that include a sunken appearance of the middle of the face (<a class="image-modal" data-alt="Four photographs of two people, each with midface hypoplasia. Each person's face is shown from the front and side views." data-caption="Note underdevelopment of the infra-orbital and peri-alar regions leading to more pronounced concavity of the face and reduced nasolabial angle. This gives the appearance of prognathia." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001KU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001KU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=5b7ad34ab35682b5" data-title="Midface hypoplasia" href="https://medlineplus.gov/images/PX0001KU_PRESENTATION.jpeg" id="PX0001KU_1" title="Show image">midface hypoplasia<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>
); a high arch in the roof of the mouth (<a class="image-modal" data-alt="Photograph of a person's open mouth showing a high arched palate." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00026J_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00026J" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=51755789482fe3a8" data-title="High arched palate" href="https://medlineplus.gov/images/PX00026J_PRESENTATION.jpeg" id="PX00026J_2" title="Show image">high-arched palate<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>
); outside corners of the eyes that point downward (<a class="image-modal" data-alt="Photograph of a child's face with his eyes showing downslanting palpebral fissures." data-caption="This boy has Downslanted palpebral fissures, Widely spaced eyes, Proptosis, and Infra-orbital creases." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001NS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001NS" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=1c4dc8688933b9ef" data-title="Downslanting palpebral fissures" href="https://medlineplus.gov/images/PX0001NS_PRESENTATION.jpeg" id="PX0001NS_3" title="Show image">downslanting palpebral fissures<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>); widely spaced eyes (<a class="image-modal" data-alt="Photograph of the face of a child with widely spaced eyes." data-caption="A boy with widely spaced eyes." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001SG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001SG" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=71d9f1be67c7f8b6" data-title="Widely spaced eyes (hypertelorism)" href="https://medlineplus.gov/images/PX0001SG_PRESENTATION.jpeg" id="PX0001SG_4" title="Show image">hypertelorism<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> ); shallow and bulging eyes (exophthalmos); <a class="image-modal" data-alt="Three photographs of faces showing a short nose from different angles." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX000223_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000223" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=daeb9fb85b0b970f" data-title="Short nose" href="https://medlineplus.gov/images/PX000223_PRESENTATION.jpeg" id="PX000223_5" title="Show image">a short, upturned nose<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>; and
<a class="image-modal" data-alt="Photograph of the side of a person's head, showing a small ear." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001YM_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001YM" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=eed352567d1bb49d" data-title="Abnormally small ear (microtia)" href="https://medlineplus.gov/images/PX0001YM_PRESENTATION.jpeg" id="PX0001YM_6" title="Show image">small, low-set ears<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Some affected individuals have dental abnormalities, such as cone-shaped (<a class="image-modal" data-alt="Photograph of small, conical-shaped teeth" data-caption="" data-credit="National Institute of Dental and Craniofacial Research/National Institutes of Health" data-filepath="images/PX000008_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000008" data-sourceurl="https://www.nidcr.nih.gov" data-title="Small, conical-shaped teeth" href="https://medlineplus.gov/images/PX000008_PRESENTATION.jpeg" id="PX000008_7" title="Show image">conical<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>
), jagged, or crowded teeth. Rarely, people with MCTT syndrome have premature fusion of certain skull bones (craniosynostosis). </p><p>People with MCTT syndrome often have characteristic brain abnormalities. The
<a class="image-modal" data-alt="Anatomy of the brain, showing the cerebrum, cerebellum, brain stem, and other parts of the brain." data-caption="Anatomy of the brain, showing the cerebrum, cerebellum, brain stem, and other parts of the brain." data-credit="© 2010 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001ZY_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001ZY" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9115" data-title="Parts of the brain" href="https://medlineplus.gov/images/PX0001ZY_PRESENTATION.jpeg" id="PX0001ZY_8" title="Show image"> surface of the brain<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>
normally has many ridges or folds, called gyri. A common brain abnormality in people with MCTT syndrome is called perisylvian <a data-pid="15249" href="https://medlineplus.gov/genetics/condition/polymicrogyria/">polymicrogyria</a>, in which an area of the brain called the perisylvian region develops too many gyri, and the folds are irregular and unusually small. Individuals with MCTT syndrome can also have a malformation of the part of the brain that coordinates movement (<a class="image-modal" data-alt="Front view of the brain with the right and left cerebral hemispheres, cerebellum, and brain stem labeled." data-caption="" data-credit="National Institute on Aging/National Institutes of Health" data-filepath="images/PX00003S_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00003S" data-sourceurl="https://www.flickr.com/photos/nihgov/sets/72157663368688842" data-title="Front view of brain" href="https://medlineplus.gov/images/PX00003S_PRESENTATION.jpeg" id="PX00003S_10" title="Show image">the cerebellum<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>
). This malformation, called
<a class="image-modal" data-alt="MRI brain images of individuals with MN1 C-terminal truncation syndrome show changes of the cerebellum characteristic of partial rhombencephalosynapsis." data-caption="MRI brain images of individuals with MN1 C-terminal truncation syndrome show changes of the cerebellum characteristic of partial rhombencephalosynapsis." data-credit="GeneReviews, University of Washington" data-filepath="images/MCTTsyndromebrain.jpg" data-imgtype="genetics" data-pix="1109095113" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK560443/figure/mn1-ctt.F2/?report=objectonly" data-title="Brain imaging of individuals with MN1 C-terminal truncation syndrome" href="https://medlineplus.gov/images/MCTTsyndromebrain.jpg" id="1109095113_11" title="Show image">atypical rhombencephalosynapsis<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>,
is characterized by tissue loss in the central part of the cerebellum (known as the vermis) and fusion of the two sides of the cerebellum. These brain abnormalities likely contribute to the movement problems and intellectual disability that are common in MCTT syndrome. </p><p>Less common features of MCTT syndrome include hearing loss, seizures, abnormal curvature of the spine, and heart abnormalities.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>The prevalence of MCTT syndrome is unknown, although it is thought to be a rare disorder. At least 25 affected individuals have been described in the scientific literature. </p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>MCTT syndrome is caused by mutations in the <a data-pid="24501" href="https://medlineplus.gov/genetics/gene/mn1/"><em>MN1</em></a><em> </em>gene. This gene provides instructions for making a protein whose function is unclear.  Based on its interaction with other proteins, the MN1 protein is thought to play a role in regulating the activity of other genes, particularly those needed for the development of the skull and brain.</p><p>All <em>MN1 </em>gene mutations that cause MCTT syndrome occur near the end (terminal) portion of the gene. As a result, an abnormally short (truncated) protein is produced. These mutations are reflected in the condition name, <em>MN1 </em>C-terminal truncation syndrome.</p><p>Research shows that a shortened MN1 protein cannot interact with other proteins, leading to a buildup of the abnormal MN1 protein in the cell nucleus. It is likely that without the normal function of the MN1 protein, the activity of certain genes involved in the development of the skull and brain is unregulated, leading to the signs and symptoms of MCTT syndrome.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with MN1 C-terminal truncation syndrome</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/mn1/">MN1</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>MCTT syndrome is inherited in an
<a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_1" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>,
which means one copy of the altered gene in each cell is sufficient to cause the disorder.</p><p>Most cases of this condition result from new (de novo) mutations in the <em>MN1 </em>gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. These cases occur in people with no history of the disorder in their family.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>CEBALID</li> <li>Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development</li> <li>MCTT syndrome</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3551915/" target="TheNewWin">Genetic Testing Registry: Familial meningioma</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/618774" target="TheNewWin">CEBALID SYNDROME; CEBALID</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=MN1+C-terminal+truncation+syndrome+OR+%22MN1+gene%22" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C,
Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke
N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang
S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B,
Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir
FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E,
Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El
N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad
MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid
RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY,
Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler
J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY,
Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and
craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 Jan
1;143(1):55-68. doi: 10.1093/brain/awz379. Erratum In: Brain. 2020 Mar
1;143(3):e24. doi: 10.1093/brain/awaa007. <a href="https://pubmed.ncbi.nlm.nih.gov/31834374" target="TheNewWin">Citation on PubMed</a></li>
<li>Mak CCY, Fung JLF, Lee M, Lin AE, Amiel J, Doherty D, Gordon CT, Chung BHY.
MN1 C-Terminal Truncation Syndrome. 2020 Aug 13. In: Adam MP, Feldman J,
Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R)
[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available
from http://www.ncbi.nlm.nih.gov/books/NBK560443/
<a href="https://pubmed.ncbi.nlm.nih.gov/32790267" target="TheNewWin">Citation on PubMed</a></li>
<li>Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M,
Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka
K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K,
Matsumoto N. Gain-of-Function MN1 Truncation Variants Cause a Recognizable
Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet. 2020 Jan
2;106(1):13-25. doi: 10.1016/j.ajhg.2019.11.011. Epub 2019 Dec 12. <a href="https://pubmed.ncbi.nlm.nih.gov/31839203" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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<a class="image-modal" id="16202_featured" href="https://medlineplus.gov/images/MCTTsyndromefaces.jpg"
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data-title="Individuals with MN1 C-terminal truncation syndrome"
data-caption="Photos of individuals with MN1 C-terminal truncation syndrome showing the change in facial features in those younger than 5 years old and those older than 5 years old."
data-credit="GeneReviews, University of Washington"
data-alt="Photos of individuals with MN1 C-terminal truncation syndrome showing the change in facial features in those younger than 5 years old and those older than 5 years old."
data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK560443/figure/mn1-ctt.F1/?report=objectonly">
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