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Mental retardation, X-linked 1(MRX1)

MedGen UID:
444070
Concept ID:
C2931498
Disease or Syndrome
Synonyms: Atkin Flaitz Patil Smith syndrome; Mental retardation X-linked, Atkin type; MENTAL RETARDATION, X-LINKED 18; MENTAL RETARDATION, X-LINKED 78; Mental retardation, X-linked nonspecific, type 1; Mental retardation, X-linked, nonspecific; MRX1
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): IQSEC2 (Xp11.22)
OMIM®: 300551; 309530

Definition

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' Classification Opitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation. Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation. [from OMIM]

Clinical features

Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding

Recent clinical studies

Etiology

Zhang Q, Zhao Y, Yang Y, Bao X
BMC Med Genet 2015 Dec 16;16:112. doi: 10.1186/s12881-015-0264-0. [Epub ahead of print] PMID: 26672597Free PMC Article
Lee C, Hong S, Lee MH, Koo HS
PLoS One 2015;10(4):e0123865. Epub 2015 Apr 8 doi: 10.1371/journal.pone.0123865. PMID: 25853498Free PMC Article
Clark JF, Cecil KM
Pediatr Res 2015 Mar;77(3):398-405. Epub 2014 Dec 18 doi: 10.1038/pr.2014.203. [Epub ahead of print] PMID: 25521922
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
Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T
J Hum Genet 2011 Aug;56(8):561-5. Epub 2011 Jun 2 doi: 10.1038/jhg.2011.58. [Epub ahead of print] PMID: 21633362

Diagnosis

Clark JF, Cecil KM
Pediatr Res 2015 Mar;77(3):398-405. Epub 2014 Dec 18 doi: 10.1038/pr.2014.203. [Epub ahead of print] PMID: 25521922
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
des Portes V
Handb Clin Neurol 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. PMID: 23622180
Chen CY, Tsai MS, Lin CY, Yu IS, Chen YT, Lin SR, Juan LW, Chen YT, Hsu HM, Lee LJ, Lin SW
Hum Mol Genet 2012 Oct 1;21(19):4270-85. Epub 2012 Jul 3 doi: 10.1093/hmg/dds261. [Epub ahead of print] PMID: 22763239
Puusepp H, Kall K, Salomons GS, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S5-11. PMID: 24137762

Therapy

Krude H, Kühnen P, Biebermann H
Best Pract Res Clin Endocrinol Metab 2015 Jun;29(3):399-413. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.004. [Epub ahead of print] PMID: 26051299
Kersseboom S, Horn S, Visser WE, Chen J, Friesema EC, Vaurs-Barrière C, Peeters RP, Heuer H, Visser TJ
Mol Endocrinol 2014 Dec;28(12):1961-70. doi: 10.1210/me.2014-1135. PMID: 25389909
Verge CF, Konrad D, Cohen M, Di Cosmo C, Dumitrescu AM, Marcinkowski T, Hameed S, Hamilton J, Weiss RE, Refetoff S
J Clin Endocrinol Metab 2012 Dec;97(12):4515-23. Epub 2012 Sep 19 doi: 10.1210/jc.2012-2556. [Epub ahead of print] PMID: 22993035Free PMC Article
Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T
Am J Med Genet A 2010 Feb;152A(2):305-12. doi: 10.1002/ajmg.a.33198. PMID: 20082459
Bonnet C, Leheup B, Béri M, Philippe C, Grégoire MJ, Jonveaux P
Am J Med Genet A 2009 Jun;149A(6):1280-9. doi: 10.1002/ajmg.a.32858. PMID: 19449417

Prognosis

Clark JF, Cecil KM
Pediatr Res 2015 Mar;77(3):398-405. Epub 2014 Dec 18 doi: 10.1038/pr.2014.203. [Epub ahead of print] PMID: 25521922
LaConte LE, Chavan V, Mukherjee K
PLoS One 2014;9(2):e88276. Epub 2014 Feb 5 doi: 10.1371/journal.pone.0088276. PMID: 24505460Free PMC Article
Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L
Eur J Hum Genet 2014 Mar;22(3):363-8. Epub 2013 Jun 12 doi: 10.1038/ejhg.2013.135. [Epub ahead of print] PMID: 23756445Free PMC Article
Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB
Autism Res 2013 Feb;6(1):42-50. Epub 2012 Nov 20 doi: 10.1002/aur.1262. [Epub ahead of print] PMID: 23169761Free PMC Article
Puusepp H, Kall K, Salomons GS, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S5-11. PMID: 24137762

Clinical prediction guides

LaConte LE, Chavan V, Mukherjee K
PLoS One 2014;9(2):e88276. Epub 2014 Feb 5 doi: 10.1371/journal.pone.0088276. PMID: 24505460Free PMC Article
Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L
Eur J Hum Genet 2014 Mar;22(3):363-8. Epub 2013 Jun 12 doi: 10.1038/ejhg.2013.135. [Epub ahead of print] PMID: 23756445Free PMC Article
Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T
J Hum Genet 2011 Aug;56(8):561-5. Epub 2011 Jun 2 doi: 10.1038/jhg.2011.58. [Epub ahead of print] PMID: 21633362
Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J, Chaabouni H
Eur J Med Genet 2011 May-Jun;54(3):241-6. Epub 2011 Feb 26 doi: 10.1016/j.ejmg.2011.01.010. [Epub ahead of print] PMID: 21315190
Puusepp H, Kall K, Salomons GS, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S5-11. PMID: 24137762

Recent systematic reviews

Birch RC, Cornish KM, Hocking DR, Trollor JN
Neuropsychol Rev 2014 Dec;24(4):491-513. Epub 2014 May 15 doi: 10.1007/s11065-014-9262-9. [Epub ahead of print] PMID: 24828430
Cuevas-Covarrubias SA, González-Huerta LM
Br J Dermatol 2008 Mar;158(3):483-6. Epub 2007 Dec 11 doi: 10.1111/j.1365-2133.2007.08373.x. [Epub ahead of print] PMID: 18076704
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
Anselm IA, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D
J Inherit Metab Dis 2006 Feb;29(1):214-9. doi: 10.1007/s10545-006-0123-4. PMID: 16601897Free PMC Article
Inlow JK, Restifo LL
Genetics 2004 Feb;166(2):835-81. PMID: 15020472Free PMC Article

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