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Mental retardation, X-linked 14(MRX14)

MedGen UID:
163231
Concept ID:
C0796220
Disease or Syndrome
Synonyms: Mental retardation, X-linked nonspecific, type 14; MRX14
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Source: HPO
 
Cytogenetic location: Xp11.3-q13.3
OMIM®: 300062

Definition

Nonsyndromic mental retardation with inconsistent abnormalities. [from MCA/MR]

Clinical features

Macroorchidism
MedGen UID:
504320
Concept ID:
CN000053
Finding
The presence of abnormally large testes.
Abnormal facial shape
MedGen UID:
505048
Concept ID:
CN001810
Finding
An abnormal morphology (form) of the face or its components.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Intellectual disability, moderate
MedGen UID:
505205
Concept ID:
CN002126
Finding
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.

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
Lisik MZ, Sieron AL
Med Sci Monit 2008 Nov;14(11):RA221-9. PMID: 18971887
Archidiacono N, Rocchi M, Rinaldi A, Filippi G
J Genet Hum 1987 Dec;35(5):381-98. PMID: 3437266
Lubs H, Travers H, Lujan E, Carroll A
Am J Med Genet 1984 Jan;17(1):145-57. doi: 10.1002/ajmg.1320170109. PMID: 6585140
Chudley AE, Knoll J, Gerrard JW, Shepel L, McGahey E, Anderson J
Am J Med Genet 1983 Apr;14(4):699-712. doi: 10.1002/ajmg.1320140412. PMID: 6846402

Diagnosis

Azzolini S, Nosadini M, Balzarin M, Sartori S, Suppiej A, Mardari R, Greggio NA, Toldo I
Brain Dev 2014 Sep;36(8):716-20. Epub 2013 Nov 19 doi: 10.1016/j.braindev.2013.10.009. [Epub ahead of print] PMID: 24268987
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
Ardon O, Amat di San Filippo C, Salomons GS, Longo N
Am J Med Genet A 2010 Aug;152A(8):1979-83. doi: 10.1002/ajmg.a.33551. PMID: 20602486
Stocco dos Santos RC, Castro NH, Lillia Holmes A, Beçak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE
Am J Med Genet A 2003 Apr 30;118A(3):255-9. doi: 10.1002/ajmg.a.20021. PMID: 12673656
Chudley AE, Knoll J, Gerrard JW, Shepel L, McGahey E, Anderson J
Am J Med Genet 1983 Apr;14(4):699-712. doi: 10.1002/ajmg.1320140412. PMID: 6846402

Therapy

Mullard A
Nat Rev Drug Discov 2015 Mar;14(3):151-3. doi: 10.1038/nrd4555. PMID: 25722228
Schretlen DJ, Varvaris M, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA
Neurology 2015 Jan 13;84(2):190-6. Epub 2014 Dec 10 doi: 10.1212/WNL.0000000000001128. [Epub ahead of print] PMID: 25503620Free 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
Myers CL, Dinwiddie SH
J ECT 2007 Mar;23(1):33-5. doi: 10.1097/01.yct.0000263261.36915.63. PMID: 17435573
Hodgson SV, Heckmatt JZ, Hughes E, Crolla JA, Dubowitz V, Bobrow M
Am J Med Genet 1986 Mar;23(3):837-47. doi: 10.1002/ajmg.1320230311. PMID: 3953680

Prognosis

Sasaki A, Shioda K, Homma T, Fukatsu R, Koide H
Neuropathology 2012 Dec;32(6):675-8. Epub 2012 Mar 13 doi: 10.1111/j.1440-1789.2012.01311.x. [Epub ahead of print] PMID: 22414170
Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, Maitra A, Schulick RD, Tang LH, Wolfgang CL, Choti MA, Velculescu VE, Diaz LA Jr, Vogelstein B, Kinzler KW, Hruban RH, Papadopoulos N
Science 2011 Mar 4;331(6021):1199-203. Epub 2011 Jan 20 doi: 10.1126/science.1200609. [Epub ahead of print] PMID: 21252315Free PMC Article
Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
Hum Mol Genet 2009 Jul 15;18(14):2643-55. Epub 2009 May 4 doi: 10.1093/hmg/ddp206. [Epub ahead of print] PMID: 19414485Free PMC Article
Lisik MZ, Sieron AL
Med Sci Monit 2008 Nov;14(11):RA221-9. PMID: 18971887
Rogatko A, Rebbeck T, Zacks S
Am J Med Genet 1995 Oct 23;59(1):24-32. doi: 10.1002/ajmg.1320590106. PMID: 8849005

Clinical prediction guides

Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J
Am J Med Genet A 2013 Dec;161A(12):3063-71. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36162. [Epub ahead of print] PMID: 24039113
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
Stocco dos Santos RC, Castro NH, Lillia Holmes A, Beçak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE
Am J Med Genet A 2003 Apr 30;118A(3):255-9. doi: 10.1002/ajmg.a.20021. PMID: 12673656
Schutz CK, Ives EJ, Chalifoux M, MacLaren L, Farrell S, Robinson PD, White BN, Holden JJ
Am J Med Genet 1996 Jul 12;64(1):89-96. doi: 10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O. PMID: 8826457
Jedele KB, Michels VV, Schaid DJ, Schowalter KV, Thibodeau SN
Am J Med Genet 1992 Apr 15-May 1;43(1-2):436-42. PMID: 1605223

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
Rueda JR, Ballesteros J, Tejada MI
BMC Neurol 2009 Oct 13;9:53. doi: 10.1186/1471-2377-9-53. [Epub ahead of print] PMID: 19822023Free PMC Article
Bailey DB Jr, Raspa M, Bishop E, Holiday D
Pediatrics 2009 Aug;124(2):527-33. Epub 2009 Jul 5 doi: 10.1542/peds.2008-2992. [Epub ahead of print] PMID: 19581269
Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A
Health Technol Assess 2003;7(16):1-106. PMID: 12969542
Grasso M, Perroni L, Dagna-Bricarelli F, Rinaldi A, Robledo R, Siniscalco M, Filippi G
Am J Med Genet 1996 Aug 9;64(2):283-6. doi: 10.1002/(SICI)1096-8628(19960809)64:2<283::AID-AJMG10>3.0.CO;2-B. PMID: 8844066

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