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Intellectual disability, X-linked 92(XLID92)

MedGen UID:
335109
•Concept ID:
C1845144
•
Mental or Behavioral Dysfunction
Synonyms: MRX92; XLID92; ZNF674-Related X-linked Mental Retardation
 
Monarch Initiative: MONDO:0010453
OMIM®: 300851

Clinical features

From HPO
Decreased testicular size
MedGen UID:
66027
•Concept ID:
C0241355
•
Finding
Reduced volume of the testicle (the male gonad).
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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
Blepharophimosis
MedGen UID:
2670
•Concept ID:
C0005744
•
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
See: Feature record | Search on this feature
High myopia
MedGen UID:
78759
•Concept ID:
C0271183
•
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.
Thomas LA, Lewis S, Massie J, Kirk EP, Archibald AD, Barlow-Stewart K, Boardman FK, Halliday J, McClaren B, Delatycki MB
Eur J Med Genet 2020 Dec;63(12):104075. Epub 2020 Sep 30 doi: 10.1016/j.ejmg.2020.104075. PMID: 33007447
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
Gandomi SK, Farwell Gonzalez KD, Parra M, Shahmirzadi L, Mancuso J, Pichurin P, Temme R, Dugan S, Zeng W, Tang S
J Genet Couns 2014 Jun;23(3):289-98. Epub 2013 Dec 4 doi: 10.1007/s10897-013-9671-6. PMID: 24306141
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

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A
Orphanet J Rare Dis 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. PMID: 37974207Free PMC Article
Endoscopic ultrasound fine-needle biopsy to assess DAXX/ATRX expression and alternative lengthening of telomeres status in non-functional pancreatic neuroendocrine tumors.
Mastrosimini MG, Manfrin E, Remo A, De Bellis M, Parisi A, Pedron S, Luchini C, Brunelli M, Ammendola S, Bernardoni L, Conti Bellocchi MC, Gabbrielli A, Facciorusso A, Pea A, Landoni L, Scarpa A, Crinò SF
Pancreatology 2023 Jun;23(4):429-436. Epub 2023 May 5 doi: 10.1016/j.pan.2023.05.002. PMID: 37169669
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE
J Clin Endocrinol Metab 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. PMID: 34679181Free PMC Article
Impaired Visual Search in Children with Rett Syndrome.
Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A
Pediatr Neurol 2019 Mar;92:26-31. Epub 2018 Oct 18 doi: 10.1016/j.pediatrneurol.2018.10.002. PMID: 30573328Free 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

Diagnosis

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
Danon disease: Gender differences in presentation and outcomes.
Brambatti M, Caspi O, Maolo A, Koshi E, Greenberg B, Taylor MRG, Adler ED
Int J Cardiol 2019 Jul 1;286:92-98. Epub 2019 Feb 16 doi: 10.1016/j.ijcard.2019.01.020. PMID: 30857840
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT
Clin Genet 2017 Jul;92(1):3-9. Epub 2016 Nov 30 doi: 10.1111/cge.12864. PMID: 27625340
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F, Caro-Llopis A, Roselló M, Oltra S, Mayo S, Monfort S, Orellana C
J Med Genet 2017 Feb;54(2):87-92. Epub 2016 Sep 12 doi: 10.1136/jmedgenet-2016-103964. PMID: 27620904

Therapy

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE
J Clin Endocrinol Metab 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. PMID: 34679181Free PMC Article
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE
Lancet Diabetes Endocrinol 2019 Sep;7(9):695-706. Epub 2019 Jul 31 doi: 10.1016/S2213-8587(19)30155-X. PMID: 31377265Free PMC Article
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil.
Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A
Arch Neurol 2005 Jul;62(7):1073-80. doi: 10.1001/archneur.62.7.1073. PMID: 16009761
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.
Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T, Grewal SS, Orchard PJ, Abel SL, Goldman AI, Ramsay NK, Dusenbery KE, Loes DJ, Lockman LA, Kato S, Aubourg PR, Moser HW, Krivit W
Blood 2004 Aug 1;104(3):881-8. Epub 2004 Apr 8 doi: 10.1182/blood-2003-10-3402. PMID: 15073029

Prognosis

Endoscopic ultrasound fine-needle biopsy to assess DAXX/ATRX expression and alternative lengthening of telomeres status in non-functional pancreatic neuroendocrine tumors.
Mastrosimini MG, Manfrin E, Remo A, De Bellis M, Parisi A, Pedron S, Luchini C, Brunelli M, Ammendola S, Bernardoni L, Conti Bellocchi MC, Gabbrielli A, Facciorusso A, Pea A, Landoni L, Scarpa A, Crinò SF
Pancreatology 2023 Jun;23(4):429-436. Epub 2023 May 5 doi: 10.1016/j.pan.2023.05.002. PMID: 37169669
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD
Pediatr Neurol 2022 Jan;126:65-73. Epub 2021 Oct 18 doi: 10.1016/j.pediatrneurol.2021.10.008. PMID: 34740135
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE
J Clin Endocrinol Metab 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. PMID: 34679181Free PMC Article
Non-functional pancreatic neuroendocrine tumours: ATRX/DAXX and alternative lengthening of telomeres (ALT) are prognostically independent from ARX/PDX1 expression and tumour size.
Hackeng WM, Brosens LAA, Kim JY, O'Sullivan R, Sung YN, Liu TC, Cao D, Heayn M, Brosnan-Cashman J, An S, Morsink FHM, Heidsma CM, Valk GD, Vriens MR, Nieveen van Dijkum E, Offerhaus GJA, Dreijerink KMA, Zeh H, Zureikat AH, Hogg M, Lee K, Geller D, Marsh JW, Paniccia A, Ongchin M, Pingpank JF, Bahary N, Aijazi M, Brand R, Chennat J, Das R, Fasanella KE, Khalid A, McGrath K, Sarkaria S, Singh H, Slivka A, Nalesnik M, Han X, Nikiforova MN, Lawlor RT, Mafficini A, Rusev B, Corbo V, Luchini C, Bersani S, Pea A, Cingarlini S, Landoni L, Salvia R, Milione M, Milella M, Scarpa A, Hong SM, Heaphy CM, Singhi AD
Gut 2022 May;71(5):961-973. Epub 2021 Apr 13 doi: 10.1136/gutjnl-2020-322595. PMID: 33849943Free PMC Article
Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
Hung KL, Wang JS, Keng WT, Chen HJ, Liang JS, Ngu LH, Lu JF
Pediatr Neurol 2013 Sep;49(3):185-90. Epub 2013 Jul 5 doi: 10.1016/j.pediatrneurol.2013.04.021. PMID: 23835273

Clinical prediction guides

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
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD
Pediatr Neurol 2022 Jan;126:65-73. Epub 2021 Oct 18 doi: 10.1016/j.pediatrneurol.2021.10.008. PMID: 34740135
Impaired Visual Search in Children with Rett Syndrome.
Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A
Pediatr Neurol 2019 Mar;92:26-31. Epub 2018 Oct 18 doi: 10.1016/j.pediatrneurol.2018.10.002. PMID: 30573328Free PMC Article
Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
Hung KL, Wang JS, Keng WT, Chen HJ, Liang JS, Ngu LH, Lu JF
Pediatr Neurol 2013 Sep;49(3):185-90. Epub 2013 Jul 5 doi: 10.1016/j.pediatrneurol.2013.04.021. PMID: 23835273
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

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