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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

Professional guidelines

PubMed

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease.
Garcia-Romero MDM, Torres RJ, Garcia-Puig J, Pascual-Pascual SI
Pediatr Neurol 2022 Feb;127:6-10. Epub 2021 Nov 1 doi: 10.1016/j.pediatrneurol.2021.10.018. PMID: 34891105
Approach to the genetic evaluation of the child with autism.
Toriello HV
Pediatr Clin North Am 2012 Feb;59(1):113-28, xi. doi: 10.1016/j.pcl.2011.10.014. PMID: 22284797
Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.
Franke P, Leboyer M, Gänsicke M, Weiffenbach O, Biancalana V, Cornillet-Lefebre P, Croquette MF, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W
Psychiatry Res 1998 Aug 17;80(2):113-27. doi: 10.1016/s0165-1781(98)00055-9. PMID: 9754690

Recent clinical studies

Etiology

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.
Pollak RM, Burrell TL, Cubells JF, Klaiman C, Murphy MM, Saulnier CA, Walker EF, White SP, Mulle JG
J Intellect Disabil Res 2024 Feb;68(2):113-127. Epub 2023 Sep 22 doi: 10.1111/jir.13094. PMID: 37740553Free PMC Article
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK
Pediatr Neurol 2017 May;70:20-25. Epub 2017 Feb 7 doi: 10.1016/j.pediatrneurol.2017.01.032. PMID: 28347601Free PMC Article
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
The genetics of autism.
Muhle R, Trentacoste SV, Rapin I
Pediatrics 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. PMID: 15121991

Diagnosis

Transcriptome level analysis in Rett syndrome using human samples from different tissues.
Shovlin S, Tropea D
Orphanet J Rare Dis 2018 Jul 11;13(1):113. doi: 10.1186/s13023-018-0857-8. PMID: 29996871Free PMC Article
Platelets as a surrogate disease model of neurodevelopmental disorders: Insights from Fragile X Syndrome.
Pellerin D, Lortie A, Corbin F
Platelets 2018 Mar;29(2):113-124. Epub 2017 Jun 29 doi: 10.1080/09537104.2017.1317733. PMID: 28660769
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
The genetics of autism.
Muhle R, Trentacoste SV, Rapin I
Pediatrics 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. PMID: 15121991

Therapy

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease.
Garcia-Romero MDM, Torres RJ, Garcia-Puig J, Pascual-Pascual SI
Pediatr Neurol 2022 Feb;127:6-10. Epub 2021 Nov 1 doi: 10.1016/j.pediatrneurol.2021.10.018. PMID: 34891105
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
Epilepsy in fragile X syndrome.
Berry-Kravis E
Dev Med Child Neurol 2002 Nov;44(11):724-8. doi: 10.1017/s0012162201002833. PMID: 12418611
Multiple sclerosis: can Schwann cells wrap it up?
Jose AM
Yale J Biol Med 2002 Mar-Apr;75(2):113-6. PMID: 12230310Free PMC Article

Prognosis

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.
Pollak RM, Burrell TL, Cubells JF, Klaiman C, Murphy MM, Saulnier CA, Walker EF, White SP, Mulle JG
J Intellect Disabil Res 2024 Feb;68(2):113-127. Epub 2023 Sep 22 doi: 10.1111/jir.13094. PMID: 37740553Free PMC Article
Platelets as a surrogate disease model of neurodevelopmental disorders: Insights from Fragile X Syndrome.
Pellerin D, Lortie A, Corbin F
Platelets 2018 Mar;29(2):113-124. Epub 2017 Jun 29 doi: 10.1080/09537104.2017.1317733. PMID: 28660769
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK
Pediatr Neurol 2017 May;70:20-25. Epub 2017 Feb 7 doi: 10.1016/j.pediatrneurol.2017.01.032. PMID: 28347601Free PMC Article
Aggression in fragile X syndrome.
Wheeler AC, Raspa M, Bishop E, Bailey DB Jr
J Intellect Disabil Res 2016 Feb;60(2):113-25. Epub 2015 Dec 2 doi: 10.1111/jir.12238. PMID: 26628097
Epilepsy in fragile X syndrome.
Berry-Kravis E
Dev Med Child Neurol 2002 Nov;44(11):724-8. doi: 10.1017/s0012162201002833. PMID: 12418611

Clinical prediction guides

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.
Pollak RM, Burrell TL, Cubells JF, Klaiman C, Murphy MM, Saulnier CA, Walker EF, White SP, Mulle JG
J Intellect Disabil Res 2024 Feb;68(2):113-127. Epub 2023 Sep 22 doi: 10.1111/jir.13094. PMID: 37740553Free PMC Article
The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome.
Fabio RA, Semino M, Giannatiempo S
Orphanet J Rare Dis 2022 Mar 5;17(1):116. doi: 10.1186/s13023-022-02259-z. PMID: 35248112Free PMC Article
Platelets as a surrogate disease model of neurodevelopmental disorders: Insights from Fragile X Syndrome.
Pellerin D, Lortie A, Corbin F
Platelets 2018 Mar;29(2):113-124. Epub 2017 Jun 29 doi: 10.1080/09537104.2017.1317733. PMID: 28660769
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK
Pediatr Neurol 2017 May;70:20-25. Epub 2017 Feb 7 doi: 10.1016/j.pediatrneurol.2017.01.032. PMID: 28347601Free PMC Article
Aggression in fragile X syndrome.
Wheeler AC, Raspa M, Bishop E, Bailey DB Jr
J Intellect Disabil Res 2016 Feb;60(2):113-25. Epub 2015 Dec 2 doi: 10.1111/jir.12238. PMID: 26628097

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