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X-linked mental retardation 17(MRX17)

MedGen UID:
163233
Concept ID:
C0796223
Disease or Syndrome
Synonyms: MENTAL RETARDATION, X-LINKED 31; MRX17; Syndromic X-linked mental retardation 10
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
 
Cytogenetic location: Xp11.22
OMIM®: 300705

Definition

Nonsyndromic mental retardation. [from MCA/MR]

Clinical features

Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.

Recent clinical studies

Etiology

Jorge P, Oliveira B, Marques I, Santos R
BMC Med Genet 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80. [Epub ahead of print] PMID: 23914978Free PMC Article
Wada T, Ban H, Matsufuji M, Okamoto N, Enomoto K, Kurosawa K, Aida N
AJNR Am J Neuroradiol 2013 Oct;34(10):2034-8. Epub 2013 May 16 doi: 10.3174/ajnr.A3560. [Epub ahead of print] PMID: 23681356
Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP
Eur J Hum Genet 2009 Apr;17(4):444-53. Epub 2008 Nov 5 doi: 10.1038/ejhg.2008.208. [Epub ahead of print] PMID: 18985075Free PMC Article
de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC
Hum Mutat 2007 Feb;28(2):207-8. doi: 10.1002/humu.9482. PMID: 17221867
Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J
Neurology 2005 Nov 8;65(9):1364-9. Epub 2005 Oct 12 doi: 10.1212/01.wnl.0000182813.94713.ee. [Epub ahead of print] PMID: 16221952

Diagnosis

Wada T, Ban H, Matsufuji M, Okamoto N, Enomoto K, Kurosawa K, Aida N
AJNR Am J Neuroradiol 2013 Oct;34(10):2034-8. Epub 2013 May 16 doi: 10.3174/ajnr.A3560. [Epub ahead of print] PMID: 23681356
Peters SU, Hundley RJ, Wilson AK, Carvalho CM, Lupski JR, Ramocki MB
J Autism Dev Disord 2013 Oct;43(10):2484-90. doi: 10.1007/s10803-013-1796-9. PMID: 23456562
Yonath H, Marek-Yagel D, Resnik-Wolf H, Abu-Horvitz A, Baris HN, Shohat M, Frydman M, Pras E
J Appl Genet 2011 Nov;52(4):437-41. Epub 2011 May 17 doi: 10.1007/s13353-011-0052-2. [Epub ahead of print] PMID: 21584729
Stevenson RE
Curr Opin Pediatr 2005 Dec;17(6):720-4. PMID: 16282777
Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J
Neurology 2005 Nov 8;65(9):1364-9. Epub 2005 Oct 12 doi: 10.1212/01.wnl.0000182813.94713.ee. [Epub ahead of print] PMID: 16221952

Therapy

Koh JW, Kim GH, Yoo HW, Yu J
J Korean Med Sci 2013 Nov;28(11):1650-6. Epub 2013 Oct 31 doi: 10.3346/jkms.2013.28.11.1650. PMID: 24265530Free PMC Article
Mitchell R, Nivison-Smith I, Anazodo A, Tiedemann K, Shaw PJ, Teague L, Fraser CJ, Carter TL, Tapp H, Alvaro F, O'Brien TA
Pediatr Transplant 2013 Sep;17(6):582-8. Epub 2013 Jun 27 doi: 10.1111/petr.12109. [Epub ahead of print] PMID: 23802616
Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW
Eur J Hum Genet 2011 Jun;19(6):717-20. Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.244. [Epub ahead of print] PMID: 21267006Free PMC Article
Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF
Brain 2008 Apr;131(Pt 4):918-27. Epub 2008 Jan 29 doi: 10.1093/brain/awm338. [Epub ahead of print] PMID: 18234694
Brown WT, Jenkins EC, Friedman E, Brooks J, Cohen IL, Duncan C, Hill AL, Malik MN, Morris V, Wolf E
Am J Med Genet 1984 Jan;17(1):289-97. doi: 10.1002/ajmg.1320170121. PMID: 6711601

Prognosis

Weisbrod AB, Zhang L, Jain M, Barak S, Quezado MM, Kebebew E
Horm Cancer 2013 Jun;4(3):165-75. Epub 2013 Jan 30 doi: 10.1007/s12672-013-0134-1. [Epub ahead of print] PMID: 23361940Free PMC Article
Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K, Bauman M, Skinner C, Stevenson RE, Schwartz CE
Am J Med Genet A 2011 May;155A(5):1109-14. Epub 2011 Apr 11 doi: 10.1002/ajmg.a.33833. [Epub ahead of print] PMID: 21484992
Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK
Am J Med Genet A 2010 Mar;152A(3):713-7. doi: 10.1002/ajmg.a.33208. PMID: 20186809
Galasso C, Lo-Castro A, El-Malhany N, Curatolo P
Ital J Pediatr 2010 Feb 14;36:17. doi: 10.1186/1824-7288-36-17. [Epub ahead of print] PMID: 20152051Free PMC Article
Golabi M, Ito M, Hall BD
Am J Med Genet 1984 Jan;17(1):367-74. doi: 10.1002/ajmg.1320170130. PMID: 6711604

Clinical prediction guides

Yonath H, Marek-Yagel D, Resnik-Wolf H, Abu-Horvitz A, Baris HN, Shohat M, Frydman M, Pras E
J Appl Genet 2011 Nov;52(4):437-41. Epub 2011 May 17 doi: 10.1007/s13353-011-0052-2. [Epub ahead of print] PMID: 21584729
de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC
Hum Mutat 2007 Feb;28(2):207-8. doi: 10.1002/humu.9482. PMID: 17221867
Shrimpton AE, Daly KM, Hoo JJ
Am J Med Genet 1999 May 28;84(3):293-9. PMID: 10331611
Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C
Am J Med Genet 1996 Jul 12;64(1):97-106. doi: 10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N. PMID: 8826458
Lujan JE, Carlin ME, Lubs HA
Am J Med Genet 1984 Jan;17(1):311-22. doi: 10.1002/ajmg.1320170124. PMID: 6711603

Recent systematic reviews

Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H
Paediatr Anaesth 2012 Aug;22(8):737-44. Epub 2012 Mar 2 doi: 10.1111/j.1460-9592.2012.03825.x. [Epub ahead of print] PMID: 22381044
Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S
Neurology 2011 Oct 25;77(17):1629-35. Epub 2011 Sep 28 doi: 10.1212/WNL.0b013e3182345896. [Epub ahead of print] PMID: 21956720
Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG, Baikie G, Fyfe S, Leonard H
Spine (Phila Pa 1976) 2009 Aug 1;34(17):E607-17. doi: 10.1097/BRS.0b013e3181a95ca4. PMID: 19644320
Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ
JAMA 2004 Jan 28;291(4):460-9. doi: 10.1001/jama.291.4.460. PMID: 14747503

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