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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, 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.
 
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 functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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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