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A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Yu Q, Lin B, Xie S, Gao S, Li W, Liu Y, Wang H, Huang D, Xie Z. Yu Q, et al. Hum Mol Genet. 2018 Jul 1;27(13):2357-2366. doi: 10.1093/hmg/ddy144. Hum Mol Genet. 2018. PMID: 29688405 Free PMC article.
Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal syndrome. Causal mutations have been ide …
Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple co …
Cryptophthalmos: associated syndromes and genetic disorders.
Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA. Landau-Prat D, et al. Ophthalmic Genet. 2023 Dec;44(6):547-552. doi: 10.1080/13816810.2023.2237568. Epub 2023 Jul 26. Ophthalmic Genet. 2023. PMID: 37493047 Free article.
An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome (n = 5), amniotic band syndrome (n = 1), FREM1-related disease (n = 1), Goldenhar versus Schimmelpenning syndrome (n = 1), MOTA syndrome (n = 1), and CELSR2- …
An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome (n = 5), amniotic band syndrome …
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
Mateo RK, Johnson R, Lehmann OJ. Mateo RK, et al. Mol Vis. 2012;18:1301-11. Epub 2012 May 30. Mol Vis. 2012. PMID: 22690109 Free PMC article.
PURPOSE: Manitoba Oculotrichoanal (MOTA) syndrome is an autosomal recessive disorder present in First Nations families that is characterized by ocular (cryptophthalmos), facial, and genital anomalies. ...
PURPOSE: Manitoba Oculotrichoanal (MOTA) syndrome is an autosomal recessive disorder present in First Nations families that is …
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.
METHODS AND RESULTS: This study shows that MOTA syndrome is caused by mutations in FREM1, a gene previously mutated in bifid nose, renal agenesis, and anorectal malformations (BNAR) syndrome. MOTA syndrome and BNAR syndrome can therefore be cons …
METHODS AND RESULTS: This study shows that MOTA syndrome is caused by mutations in FREM1, a gene previously mutated in bifid n …
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. Li C, et al. Am J Med Genet A. 2007 Apr 15;143A(8):853-7. doi: 10.1002/ajmg.a.31446. Am J Med Genet A. 2007. PMID: 17352387
The Manitoba Oculotrichoanal (MOTA) syndrome was initially described by Marles et al. [1992; Am J Med Genet 42: 793-799] in Aboriginal patients of the Island Lake region of Northern Manitoba. ...We describe here seven new patients of the same extended kindred of Cre …
The Manitoba Oculotrichoanal (MOTA) syndrome was initially described by Marles et al. [1992; Am J Med Genet 42: 793-799] in Ab …
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. Nathanson J, et al. Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401257 Free PMC article.
Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to b …
Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal …
MOTA syndrome diagnosis following unexpected neonatal death.
Nabhan MS, Maher MA, Parthasarathy S. Nabhan MS, et al. BMJ Case Rep. 2025 Oct 5;18(10):e268083. doi: 10.1136/bcr-2025-268083. BMJ Case Rep. 2025. PMID: 41052809
The Manitoba Oculo-Tricho-Anal (MOTA) syndrome was first described in 1992. MOTA syndrome is a rare syndrome. MOTA syndrome has a clear genetic autosomal recessive inheritance pattern. ...This case highlights the need for genetic a …
The Manitoba Oculo-Tricho-Anal (MOTA) syndrome was first described in 1992. MOTA syndrome is a rare syndrome …
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.
Chacon-Camacho OF, Zenker M, Schanze D, Ledesma-Gil J, Zenteno JC. Chacon-Camacho OF, et al. Eur J Med Genet. 2017 Mar;60(3):190-194. doi: 10.1016/j.ejmg.2017.01.005. Epub 2017 Jan 19. Eur J Med Genet. 2017. PMID: 28111185 Review.
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalie …
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinica …
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
Slavotinek A, Li C, Sherr EH, Chudley AE. Slavotinek A, et al. Am J Med Genet A. 2006 Sep 15;140(18):1909-14. doi: 10.1002/ajmg.a.31399. Am J Med Genet A. 2006. PMID: 16894541
We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for muta …
We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two pati …
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Beck TF, et al. Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5. Hum Mol Genet. 2013. PMID: 23221805 Free PMC article.
Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in th …
Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal a …
14 results