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Intellectual disability, X-linked 105(XLID105)

MedGen UID:
934783
•Concept ID:
C4310816
•
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105; XLID105
 
Gene (location): USP27X (Xp11.23)
 
Monarch Initiative: MONDO:0010510
OMIM®: 300984

Definition

X-linked intellectual developmental disorder-105 (XLID105) is characterized by different combinations of impaired intellectual development, developmental delay, autism spectrum disorder, ADHD, and anxiety. Some patients have ophthalmologic abnormalities (summary by Koch et al., 2024). [from OMIM]

Clinical features

From HPO
Atypical behavior
MedGen UID:
14048
•Concept ID:
C0004941
•
Sign or Symptom
Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
See: Feature record | Search on this feature
Absent speech
MedGen UID:
340737
•Concept ID:
C1854882
•
Finding
Complete lack of development of speech and language abilities.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.
Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV
Mol Genet Metab 2012 Mar;105(3):416-20. Epub 2011 Dec 2 doi: 10.1016/j.ymgme.2011.11.195. PMID: 22197596
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
Lima FT, Brunoni D, Schwartzman JS, Pozzi MC, Kok F, Juliano Y, Pereira Lda V
Arq Neuropsiquiatr 2009 Sep;67(3A):577-84. doi: 10.1590/s0004-282x2009000400001. PMID: 19722030
Laboratory policies and practices for the genetic testing of children: a survey of the Helix network.
Wertz DC, Reilly PR
Am J Hum Genet 1997 Nov;61(5):1163-8. doi: 10.1086/301593. PMID: 9345088Free PMC Article

Recent clinical studies

Etiology

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T
Life Sci Alliance 2024 Mar;7(3) Epub 2024 Jan 5 doi: 10.26508/lsa.202302258. PMID: 38182161Free PMC Article
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW
Am J Hum Genet 2014 May 1;94(5):677-94. Epub 2014 Apr 24 doi: 10.1016/j.ajhg.2014.03.018. PMID: 24768552Free PMC Article
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275Free PMC Article
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Betsalel OT, Pop A, Rosenberg EH, Fernandez-Ojeda M; Creatine Transporter Research, Group, Jakobs C, Salomons GS
Mol Genet Metab 2012 Apr;105(4):596-601. Epub 2012 Jan 6 doi: 10.1016/j.ymgme.2011.12.022. PMID: 22281021
"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.
Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV
J Mol Neurosci 2007 Sep;33(1):105-13. doi: 10.1007/s12031-007-0041-4. PMID: 17901554

Diagnosis

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T
Life Sci Alliance 2024 Mar;7(3) Epub 2024 Jan 5 doi: 10.26508/lsa.202302258. PMID: 38182161Free PMC Article
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated.
Jangouk P, Zackowski KM, Naidu S, Raymond GV
Mol Genet Metab 2012 Feb;105(2):180-5. Epub 2011 Nov 10 doi: 10.1016/j.ymgme.2011.11.001. PMID: 22112817
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW
J Med Genet 2011 Dec;48(12):840-50. Epub 2011 Oct 8 doi: 10.1136/jmedgenet-2011-100125. PMID: 21984752
Ophthalmologic findings in the fragile X syndrome.
Storm RL, PeBenito R, Ferretti C
Arch Ophthalmol 1987 Aug;105(8):1099-102. doi: 10.1001/archopht.1987.01060080101036. PMID: 3632420

Therapy

Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation.
Chen RL, Lin KK, Chen LY
Int J Mol Sci 2019 Jul 2;20(13) doi: 10.3390/ijms20133261. PMID: 31269755Free PMC Article
A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice.
Shimada Y, Wakabayashi T, Akiyama K, Hoshina H, Higuchi T, Kobayashi H, Eto Y, Ida H, Ohashi T
Mol Genet Metab 2016 Feb;117(2):140-3. Epub 2015 May 21 doi: 10.1016/j.ymgme.2015.05.009. PMID: 26051019
"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.
Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV
J Mol Neurosci 2007 Sep;33(1):105-13. doi: 10.1007/s12031-007-0041-4. PMID: 17901554
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M
J Neurosurg 2006 Nov;105(5 Suppl):403-12. doi: 10.3171/ped.2006.105.5.403. PMID: 17328266

Prognosis

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M
J Neurosurg 2006 Nov;105(5 Suppl):403-12. doi: 10.3171/ped.2006.105.5.403. PMID: 17328266
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
Wichers M, Köhler W, Brennemann W, Boese V, Sokolowski P, Bidlingmaier F, Ludwig M
Hum Genet 1999 Jul-Aug;105(1-2):116-9. doi: 10.1007/s004399900090. PMID: 10480364

Clinical prediction guides

Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
Sahajpal N, Ziats C, Chaubey A, DuPont BR, Abidi F, Schwartz CE, Stevenson RE
Clin Genet 2024 Feb;105(2):173-184. Epub 2023 Oct 29 doi: 10.1111/cge.14445. PMID: 37899624
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
Wichers M, Köhler W, Brennemann W, Boese V, Sokolowski P, Bidlingmaier F, Ludwig M
Hum Genet 1999 Jul-Aug;105(1-2):116-9. doi: 10.1007/s004399900090. PMID: 10480364
XLMR genes: update 1996.
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G
Am J Med Genet 1996 Jul 12;64(1):147-57. doi: 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M. PMID: 8826465
Ophthalmologic findings in the fragile X syndrome.
Storm RL, PeBenito R, Ferretti C
Arch Ophthalmol 1987 Aug;105(8):1099-102. doi: 10.1001/archopht.1987.01060080101036. PMID: 3632420

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      OMIM records containing genes associated with phenotypes registered in MedGen
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