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Intellectual developmental disorder, x-linked 113(XLID113)

MedGen UID:
1852264
•Concept ID:
C5882666
•
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113; XLID113
 
Gene (location): CSTF2 (Xq22.1)
 
Monarch Initiative: MONDO:0958200
OMIM®: 301116

Definition

X-linked intellectual developmental disorder-113 (XLID113) is characterized by mild speech delay and learning difficulties in affected males (Grozdanov et al., 2020). [from OMIM]

Clinical features

From HPO
Intellectual disability, mild
MedGen UID:
10044
•Concept ID:
C0026106
•
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
See: Feature record | Search on this feature
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL
Hum Mutat 2015 Dec;36(12):1197-204. Epub 2015 Sep 30 doi: 10.1002/humu.22901. PMID: 26350204Free PMC Article
Fragile X and X-linked intellectual disability: four decades of discovery.
Lubs HA, Stevenson RE, Schwartz CE
Am J Hum Genet 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. PMID: 22482801Free PMC Article
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE
J Med Genet 2008 Dec;45(12):787-93. Epub 2008 Aug 12 doi: 10.1136/jmg.2008.058990. PMID: 18697827Free PMC Article
Ophthalmic manifestations of Danon disease.
Prall FR, Drack A, Taylor M, Ku L, Olson JL, Gregory D, Mestroni L, Mandava N
Ophthalmology 2006 Jun;113(6):1010-3. doi: 10.1016/j.ophtha.2006.02.030. PMID: 16751040
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.
Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L
J Med Genet 2002 Feb;39(2):113-7. doi: 10.1136/jmg.39.2.113. PMID: 11836360Free PMC Article

Diagnosis

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL
Hum Mutat 2015 Dec;36(12):1197-204. Epub 2015 Sep 30 doi: 10.1002/humu.22901. PMID: 26350204Free PMC Article
Creatine deficiency syndromes.
Schulze A
Handb Clin Neurol 2013;113:1837-43. doi: 10.1016/B978-0-444-59565-2.00053-8. PMID: 23622406
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N
J Hum Genet 2013 Feb;58(2):113-5. Epub 2012 Oct 4 doi: 10.1038/jhg.2012.117. PMID: 23034536
Fragile X and X-linked intellectual disability: four decades of discovery.
Lubs HA, Stevenson RE, Schwartz CE
Am J Hum Genet 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. PMID: 22482801Free PMC Article

Therapy

Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.
Ambarsari CG, Cahyadi D, Sari L, Satria O, Sahli F, Darmadi TL, Kadaristiana A
Ren Fail 2020 Nov;42(1):113-121. doi: 10.1080/0886022X.2020.1713805. PMID: 31985336Free PMC Article
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Oxidative stress in Rett syndrome: natural history, genotype, and variants.
Leoncini S, De Felice C, Signorini C, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J
Redox Rep 2011;16(4):145-53. doi: 10.1179/1351000211Y.0000000004. PMID: 21888765Free PMC Article

Prognosis

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
Larcher L, Norris JW, Lejeune E, Buratti J, Mignot C, Garel C, Keren B, Schwartz CE, Whalen S
Eur J Med Genet 2020 Apr;63(4):103777. Epub 2019 Sep 30 doi: 10.1016/j.ejmg.2019.103777. PMID: 31580924
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article

Clinical prediction guides

Oxidative stress in Rett syndrome: natural history, genotype, and variants.
Leoncini S, De Felice C, Signorini C, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J
Redox Rep 2011;16(4):145-53. doi: 10.1179/1351000211Y.0000000004. PMID: 21888765Free PMC Article
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE
J Med Genet 2008 Dec;45(12):787-93. Epub 2008 Aug 12 doi: 10.1136/jmg.2008.058990. PMID: 18697827Free PMC Article
Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension.
Demura M, Takeda Y, Yoneda T, Furukawa K, Tachi A, Mabuchi H
J Clin Endocrinol Metab 2003 Jul;88(7):3043-9. doi: 10.1210/jc.2002-021527. PMID: 12843141
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31).
Donnelly AJ, Partington MW, Ryan AK, Mulley JC
Am J Med Genet 1996 Jul 12;64(1):113-20. doi: 10.1002/(SICI)1096-8628(19960712)64:1<113::AID-AJMG19>3.0.CO;2-Q. PMID: 8826460

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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