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Mental retardation, autosomal recessive 1(MRT1)

MedGen UID:
344468
Concept ID:
C1855304
Disease or Syndrome
Synonyms: MRT1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): PRSS12 (4q26)
OMIM®: 249500

Clinical features

Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
An abnormal reflex consisting of dorsiflexion of the great toe and abduction of the other toes in response to cutaneous stimulation of the plantar surface of the foot.
Hyperactive deep tendon reflexes
MedGen UID:
331652
Concept ID:
C1834053
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding

Recent clinical studies

Etiology

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M
Eur J Hum Genet 2014 Oct;22(10):1233-5. Epub 2014 May 7 doi: 10.1038/ejhg.2014.63. [Epub ahead of print] PMID: 24801762Free PMC Article
Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P
Eur J Hum Genet 2014 Jun;22(6):762-7. Epub 2013 Oct 16 doi: 10.1038/ejhg.2013.241. [Epub ahead of print] PMID: 24129430Free PMC Article
Afroze B, Chaudhry B
J Pak Med Assoc 2013 Jan;63(1):106-10. PMID: 23865144
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM
Lancet 2012 Nov 10;380(9854):1674-82. Epub 2012 Sep 27 doi: 10.1016/S0140-6736(12)61480-9. [Epub ahead of print] PMID: 23020937
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H
Am J Hum Genet 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. PMID: 21763484Free PMC Article

Diagnosis

Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA
Eur J Med Genet 2014 Oct;57(10):543-51. Epub 2014 Jul 29 doi: 10.1016/j.ejmg.2014.07.002. [Epub ahead of print] PMID: 25078763
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S
Am J Med Genet A 2014 May;164A(5):1277-83. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36439. [Epub ahead of print] PMID: 24664804
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M
Brain 2014 Feb;137(Pt 2):411-9. Epub 2013 Dec 24 doi: 10.1093/brain/awt338. [Epub ahead of print] PMID: 24369382Free PMC Article
Oehl-Jaschkowitz B, Vanakker OM, De Paepe A, Menten B, Martin T, Weber G, Christmann A, Krier R, Scheid S, McNerlan SE, McKee S, Tzschach A
Am J Med Genet A 2014 Mar;164A(3):620-6. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36321. [Epub ahead of print] PMID: 24357125
Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P
Eur J Hum Genet 2014 Jun;22(6):762-7. Epub 2013 Oct 16 doi: 10.1038/ejhg.2013.241. [Epub ahead of print] PMID: 24129430Free PMC Article

Therapy

Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR
J Clin Invest 2015 Feb;125(2):636-51. Epub 2015 Jan 9 doi: 10.1172/JCI77435. [Epub ahead of print] PMID: 25574841Free PMC Article
Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M
Eur J Hum Genet 2014 Oct;22(10):1233-5. Epub 2014 May 7 doi: 10.1038/ejhg.2014.63. [Epub ahead of print] PMID: 24801762Free PMC Article
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM
Lancet Neurol 2014 Jan;13(1):44-58. Epub 2013 Nov 29 doi: 10.1016/S1474-4422(13)70265-5. [Epub ahead of print] PMID: 24291220Free PMC Article
Suh S, Kim HK, Park HD, Ki CS, Kim MY, Jin SM, Kim SW, Hur KY, Kim KW, Kim JH
Eur J Med Genet 2012 Jan;55(1):71-4. Epub 2011 Sep 16 doi: 10.1016/j.ejmg.2011.08.003. [Epub ahead of print] PMID: 21958693
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. [Epub ahead of print] PMID: 20852892

Prognosis

Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA
Am J Med Genet A 2014 Feb;164A(2):291-304. Epub 2013 Nov 5 doi: 10.1002/ajmg.a.36248. [Epub ahead of print] PMID: 24194475
Khattak NA, Mir A
CNS Neurol Disord Drug Targets 2014;13(4):699-711. PMID: 24040793
Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F
Hum Genet 2014 Jan;133(1):29-39. Epub 2013 Aug 27 doi: 10.1007/s00439-013-1351-y. [Epub ahead of print] PMID: 23982343
Püttmann L, Stehr H, Garshasbi M, Hu H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers HH, Musante L, Kuss AW
Am J Med Genet A 2013 Aug;161A(8):1915-22. Epub 2013 Jul 4 doi: 10.1002/ajmg.a.36030. [Epub ahead of print] PMID: 23825041
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J; FORGE Canada Consortium, Majewski J, Bulman DE, Parboosingh JS, Boycott KM
Orphanet J Rare Dis 2013 Apr 26;8:62. doi: 10.1186/1750-1172-8-62. [Epub ahead of print] PMID: 23621916Free PMC Article

Clinical prediction guides

Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA
Eur J Med Genet 2014 Oct;57(10):543-51. Epub 2014 Jul 29 doi: 10.1016/j.ejmg.2014.07.002. [Epub ahead of print] PMID: 25078763
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S
Am J Med Genet A 2014 May;164A(5):1277-83. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36439. [Epub ahead of print] PMID: 24664804
Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB
Hum Genet 2014 Aug;133(8):975-84. Epub 2014 Mar 13 doi: 10.1007/s00439-014-1438-0. [Epub ahead of print] PMID: 24623383
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M
Brain 2014 Feb;137(Pt 2):411-9. Epub 2013 Dec 24 doi: 10.1093/brain/awt338. [Epub ahead of print] PMID: 24369382Free PMC Article
Khattak NA, Mir A
CNS Neurol Disord Drug Targets 2014;13(4):699-711. PMID: 24040793

Recent systematic reviews

Oehl-Jaschkowitz B, Vanakker OM, De Paepe A, Menten B, Martin T, Weber G, Christmann A, Krier R, Scheid S, McNerlan SE, McKee S, Tzschach A
Am J Med Genet A 2014 Mar;164A(3):620-6. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36321. [Epub ahead of print] PMID: 24357125
Fraidakis MJ
Transl Psychiatry 2013 Sep 3;3:e302. doi: 10.1038/tp.2013.76. PMID: 24002088Free PMC Article
Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, Neri G, Zollino M
Eur J Hum Genet 2013 Feb;21(2):229-32. Epub 2012 May 2 doi: 10.1038/ejhg.2012.79. [Epub ahead of print] PMID: 22549410Free PMC Article
Srinath A, Shneider BL
J Pediatr Gastroenterol Nutr 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. PMID: 22197937Free PMC Article
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P
Am J Med Genet A 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. PMID: 16700052

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