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Intellectual developmental disorder, X-linked 112(XLID112)

MedGen UID:
1840225
Concept ID:
C5829589
Disease or Syndrome
Synonym: XLID112
 
Gene (location): ZMYM3 (Xq13.1)
 
Monarch Initiative: MONDO:0957496
OMIM®: 301111

Definition

X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023). [from OMIM]

Professional guidelines

PubMed

Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403
Leonard H, Ravikumara M, Baikie G, Naseem N, Ellaway C, Percy A, Abraham S, Geerts S, Lane J, Jones M, Bathgate K, Downs J; Telethon Institute for Child Health Research
J Pediatr Gastroenterol Nutr 2013 Oct;57(4):451-60. doi: 10.1097/MPG.0b013e31829e0b65. PMID: 24084372Free PMC Article

Recent clinical studies

Etiology

Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N
CNS Neurosci Ther 2018 Dec;24(12):1196-1206. Epub 2018 Apr 17 doi: 10.1111/cns.12860. PMID: 29667327Free PMC Article
Fu R, Chen CJ, Jinnah HA
Mol Genet Metab 2014 Aug;112(4):280-5. Epub 2014 May 28 doi: 10.1016/j.ymgme.2014.05.012. PMID: 24930028Free PMC Article
Leonard H, Ravikumara M, Baikie G, Naseem N, Ellaway C, Percy A, Abraham S, Geerts S, Lane J, Jones M, Bathgate K, Downs J; Telethon Institute for Child Health Research
J Pediatr Gastroenterol Nutr 2013 Oct;57(4):451-60. doi: 10.1097/MPG.0b013e31829e0b65. PMID: 24084372Free PMC Article
von Gontard A, Backes M, Laufersweiler-Plass C, Wendland C, Lehmkuhl G, Zerres K, Rudnik-Schöneborn S
J Child Psychol Psychiatry 2002 Oct;43(7):949-57. doi: 10.1111/1469-7610.00098. PMID: 12405482
Fisch GS
Am J Med Genet 1993 Jul 15;48(2):112-21. doi: 10.1002/ajmg.1320480210. PMID: 8362927

Diagnosis

Raspa M, Wheeler A, Okoniewski KC, Edwards A, Scott S
J Dev Behav Pediatr 2023 Jan 1;44(1):e56-e65. Epub 2022 Oct 11 doi: 10.1097/DBP.0000000000001134. PMID: 36219479Free PMC Article
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Fu R, Chen CJ, Jinnah HA
Mol Genet Metab 2014 Aug;112(4):280-5. Epub 2014 May 28 doi: 10.1016/j.ymgme.2014.05.012. PMID: 24930028Free PMC Article
Pereira Fdos S, Matte U, Habekost CT, de Castilhos RM, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB
PLoS One 2012;7(3):e34195. Epub 2012 Mar 29 doi: 10.1371/journal.pone.0034195. PMID: 22479560Free PMC Article
Dunn HG
Brain Dev 2001 Dec;23 Suppl 1:S38-43. doi: 10.1016/s0387-7604(01)00335-7. PMID: 11738840

Therapy

Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403
Specchio N, Balestri M, Striano P, Cilio MR, Nardello R, Patanè S, Margiotta ML, D'Orsi G, Striano S, Russo S, Specchio LM, Cusmai R, Fusco L, Vigevano F
Epilepsy Res 2010 Feb;88(2-3):112-7. Epub 2009 Nov 14 doi: 10.1016/j.eplepsyres.2009.10.005. PMID: 19914805
Taffe JR, Gray KM, Einfeld SL, Dekker MC, Koot HM, Emerson E, Koskentausta T, Tonge BJ
Am J Ment Retard 2007 Jan;112(1):31-9. doi: 10.1352/0895-8017(2007)112[31:SFOTDB]2.0.CO;2. PMID: 17181389Free PMC Article
Bussani C, Papi L, Sestini R, Baldinotti F, Bucciantini S, Bruni V, Scarselli G
Eur J Obstet Gynecol Reprod Biol 2004 Feb 10;112(2):189-91. doi: 10.1016/j.ejogrb.2003.06.003. PMID: 14746957
Moser AB, Borel J, Odone A, Naidu S, Cornblath D, Sanders DB, Moser HW
Ann Neurol 1987 Mar;21(3):240-9. doi: 10.1002/ana.410210305. PMID: 2440378

Prognosis

Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Wang Z, Rice SV, Chang TC, Liu Y, Liu Q, Qin N, Putnam DK, Shelton K, Lanctot JQ, Wilson CL, Ness KK, Rusch MC, Edmonson MN, Wu G, Easton J, Kesserwan CA, Downing JR, Chen X, Nichols KE, Yasui Y, Robison LL, Zhang J
J Natl Cancer Inst 2020 Jul 1;112(7):756-764. doi: 10.1093/jnci/djz210. PMID: 31647544Free PMC Article
Hempel JM, Brendle C, Bender B, Bier G, Kraus MS, Skardelly M, Richter H, Eckert F, Schittenhelm J, Ernemann U, Klose U
Eur J Radiol 2019 Mar;112:144-152. Epub 2019 Jan 15 doi: 10.1016/j.ejrad.2019.01.014. PMID: 30777204
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N
CNS Neurosci Ther 2018 Dec;24(12):1196-1206. Epub 2018 Apr 17 doi: 10.1111/cns.12860. PMID: 29667327Free PMC Article
Roberts J, Price J, Barnes E, Nelson L, Burchinal M, Hennon EA, Moskowitz L, Edwards A, Malkin C, Anderson K, Misenheimer J, Hooper SR
Am J Ment Retard 2007 May;112(3):177-93. doi: 10.1352/0895-8017(2007)112[177:RVEVAS]2.0.CO;2. PMID: 17542655

Clinical prediction guides

Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Protic D, Salcedo-Arellano MJ, Stojkovic M, Saldarriaga W, Ávila Vidal LA, Miller RM, Tabatadze N, Peric M, Hagerman R, Budimirovic DB
Yale J Biol Med 2021 Dec;94(4):559-571. Epub 2021 Dec 29 PMID: 34970093Free PMC Article
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N
CNS Neurosci Ther 2018 Dec;24(12):1196-1206. Epub 2018 Apr 17 doi: 10.1111/cns.12860. PMID: 29667327Free PMC Article
Pereira Fdos S, Matte U, Habekost CT, de Castilhos RM, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB
PLoS One 2012;7(3):e34195. Epub 2012 Mar 29 doi: 10.1371/journal.pone.0034195. PMID: 22479560Free PMC Article
Fisch GS
Am J Med Genet 1993 Jul 15;48(2):112-21. doi: 10.1002/ajmg.1320480210. PMID: 8362927

Recent systematic reviews

Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403

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