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INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114(XLID114)

MedGen UID:
1055694
•Concept ID:
CN378687
•
Disease or Syndrome
Synonym: XLID114
 
Gene (location): SRPK3 (Xq28)
 
OMIM®: 301134

Definition

X-linked intellectual developmental disorder-114 (XLID114) is characterized by impaired intellectual development, agenesis of the corpus callosum, abnormal eye movement, and ataxia (Roychaudhury et al., 2024). [from OMIM]

Professional guidelines

PubMed

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E
Am J Med Genet A 2016 Apr;170A(4):967-77. Epub 2015 Dec 22 doi: 10.1002/ajmg.a.37519. PMID: 26692240
Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.
Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M
Mol Genet Metab 2015 Apr;114(4):599-603. Epub 2015 Feb 12 doi: 10.1016/j.ymgme.2015.02.002. PMID: 25724074
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S
Mol Genet Metab 2015 Jan;114(1):46-50. Epub 2014 Nov 27 doi: 10.1016/j.ymgme.2014.11.013. PMID: 25481105

Recent clinical studies

Etiology

Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.
Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M
Mol Genet Metab 2015 Apr;114(4):599-603. Epub 2015 Feb 12 doi: 10.1016/j.ymgme.2015.02.002. PMID: 25724074
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
Artigalás OA, da Silva LR, Burin M, Pastores GM, Zeng B, Macedo N, Schwartz IV
Metab Brain Dis 2009 Sep;24(3):493-500. Epub 2009 Aug 21 doi: 10.1007/s11011-009-9151-8. PMID: 19697114
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
Gigarel N, Frydman N, Burlet P, Kerbrat V, Steffann J, Frydman R, Munnich A, Ray PF
Hum Genet 2004 Feb;114(3):298-305. Epub 2003 Dec 12 doi: 10.1007/s00439-003-1063-9. PMID: 14673643
The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.
Geva E, Yaron Y, Shomrat R, Ben-Yehuda A, Zabari S, Peretz H, Naiman T, Yeger H, Orr-Urtreger A
Genet Test 2000;4(3):289-92. doi: 10.1089/10906570050501524. PMID: 11142761

Diagnosis

Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E
Am J Med Genet A 2016 Apr;170A(4):967-77. Epub 2015 Dec 22 doi: 10.1002/ajmg.a.37519. PMID: 26692240
Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.
Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M
Mol Genet Metab 2015 Apr;114(4):599-603. Epub 2015 Feb 12 doi: 10.1016/j.ymgme.2015.02.002. PMID: 25724074
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S
Mol Genet Metab 2015 Jan;114(1):46-50. Epub 2014 Nov 27 doi: 10.1016/j.ymgme.2014.11.013. PMID: 25481105
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
Gigarel N, Frydman N, Burlet P, Kerbrat V, Steffann J, Frydman R, Munnich A, Ray PF
Hum Genet 2004 Feb;114(3):298-305. Epub 2003 Dec 12 doi: 10.1007/s00439-003-1063-9. PMID: 14673643

Prognosis

Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Zhang W, Xie T, Sheng H, Shao Y, Lin Y, Jiang M, Xu A, Su X, Liu Z, Zhao X, Liu L, Huang Y
Clin Chim Acta 2019 Apr;491:114-120. Epub 2019 Jan 11 doi: 10.1016/j.cca.2019.01.009. PMID: 30639582

Clinical prediction guides

Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Zhang W, Xie T, Sheng H, Shao Y, Lin Y, Jiang M, Xu A, Su X, Liu Z, Zhao X, Liu L, Huang Y
Clin Chim Acta 2019 Apr;491:114-120. Epub 2019 Jan 11 doi: 10.1016/j.cca.2019.01.009. PMID: 30639582
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E
Am J Med Genet A 2016 Apr;170A(4):967-77. Epub 2015 Dec 22 doi: 10.1002/ajmg.a.37519. PMID: 26692240
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG
Am J Hum Genet 2013 Jan 10;92(1):114-25. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.11.008. PMID: 23246292Free PMC Article
ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
Pan H, Xiong H, Wu Y, Zhang YH, Bao XH, Jiang YW, Wu XR
Pediatr Neurol 2005 Aug;33(2):114-20. doi: 10.1016/j.pediatrneurol.2005.03.006. PMID: 16087056

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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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