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Intellectual disability, X-linked 50(XLID50)

MedGen UID:
376278
•Concept ID:
C1848087
•
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50; MRX50; XLID50
 
Gene (location): SYN1 (Xp11.3-11.23)
 
Monarch Initiative: MONDO:0010251
OMIM®: 300115

Definition

X-linked intellectual developmental disorder-50 (XLID50) is a neurodevelopmental disorder characterized by impaired intellectual development accompanied variably by short stature, autistic features, and brain imaging anomalies. Seizures are not present. Carrier females may be affected. Hemizygous mutation in the SYN1 gene also causes X-linked epilepsy with variable learning disabilities and behavior disorders (EPILX1; 300491), which shows overlapping features. [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.
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Professional guidelines

PubMed

The diagnosis and management of mucopolysaccharidosis type II.
Mao SJ, Chen QQ, Dai YL, Dong GP, Zou CC
Ital J Pediatr 2024 Oct 8;50(1):207. doi: 10.1186/s13052-024-01769-9. PMID: 39380047Free PMC Article
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S
Genet Med 2021 Jul;23(7):1202-1210. Epub 2021 Mar 5 doi: 10.1038/s41436-021-01119-8. PMID: 33674768Free PMC Article
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL
JAMA Netw Open 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. PMID: 32003821Free PMC Article

Recent clinical studies

Etiology

Easily misdiagnosed X-linked adrenoleukodystrophy.
Wang QH, Wang YY, Wang J, Liu LY, Gao J, Hao GZ, Chen C, Lu Q, Dun S, Zhang Q, Zou LP
Ital J Pediatr 2024 Jul 2;50(1):124. doi: 10.1186/s13052-024-01669-y. PMID: 38956688Free PMC Article
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS
Epilepsy Res 2021 Feb;170:106530. Epub 2020 Dec 9 doi: 10.1016/j.eplepsyres.2020.106530. PMID: 33508693
Next-generation sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P
Eur J Hum Genet 2015 Nov;23(11):1513-8. Epub 2015 Feb 4 doi: 10.1038/ejhg.2015.5. PMID: 25649377Free PMC Article
Fragile X syndrome.
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

Diagnosis

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A
Clin Genet 2021 Nov;100(5):573-600. Epub 2021 Aug 19 doi: 10.1111/cge.14044. PMID: 34374989
NAA10-related syndrome.
Wu Y, Lyon GJ
Exp Mol Med 2018 Jul 27;50(7):1-10. doi: 10.1038/s12276-018-0098-x. PMID: 30054457Free PMC Article
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
Adrenoleukodystrophy.
Cappa M, Bizzarri C, Vollono C, Petroni A, Banni S
Endocr Dev 2011;20:149-160. Epub 2010 Dec 16 doi: 10.1159/000321236. PMID: 21164268
X-linked adrenoleukodystrophy.
Moser HW, Mahmood A, Raymond GV
Nat Clin Pract Neurol 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. PMID: 17342190

Therapy

Complete loss of the X-linked gene CASK causes severe cerebellar degeneration.
Patel PA, Hegert JV, Cristian I, Kerr A, LaConte LEW, Fox MA, Srivastava S, Mukherjee K
J Med Genet 2022 Nov;59(11):1044-1057. Epub 2022 Feb 11 doi: 10.1136/jmedgenet-2021-108115. PMID: 35149592Free PMC Article
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. PMID: 26845288Free PMC Article
Therapy of X-linked adrenoleukodystrophy.
Semmler A, Köhler W, Jung HH, Weller M, Linnebank M
Expert Rev Neurother 2008 Sep;8(9):1367-79. doi: 10.1586/14737175.8.9.1367. PMID: 18759549
X-linked adrenoleukodystrophy.
Moser HW, Mahmood A, Raymond GV
Nat Clin Pract Neurol 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. PMID: 17342190
Fragile X syndrome.
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687

Prognosis

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N, Trujillo-Quintero JP, Manso C, Gabau E, Capdevila N, Martinez-Glez V, Berenguer-Llergo A, Reyes S, Brunet A, Baena N, Guitart M, Ruiz A
Genes (Basel) 2023 Mar 13;14(3) doi: 10.3390/genes14030708. PMID: 36980980Free PMC Article
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS
Epilepsy Res 2021 Feb;170:106530. Epub 2020 Dec 9 doi: 10.1016/j.eplepsyres.2020.106530. PMID: 33508693
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.
Moser HW, Moser AB, Naidu S, Bergin A
Dev Neurosci 1991;13(4-5):254-61. doi: 10.1159/000112170. PMID: 1817030
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

Clinical prediction guides

Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS
Epilepsy Res 2021 Feb;170:106530. Epub 2020 Dec 9 doi: 10.1016/j.eplepsyres.2020.106530. PMID: 33508693
Rett syndrome: disruption of epigenetic control of postnatal neurological functions.
Pohodich AE, Zoghbi HY
Hum Mol Genet 2015 Oct 15;24(R1):R10-6. Epub 2015 Jun 9 doi: 10.1093/hmg/ddv217. PMID: 26060191Free PMC Article
Next-generation sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P
Eur J Hum Genet 2015 Nov;23(11):1513-8. Epub 2015 Feb 4 doi: 10.1038/ejhg.2015.5. PMID: 25649377Free PMC Article
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil.
Jardim LB, da Silva AC, Blank D, Villanueva MM, Renck L, Costa ML, Vargas CR, Deon M, Coelho Dl, Vedolin L, de Castro CG Jr, Gregianin L, Bonfim C, Giugliani R
Brain Dev 2010 Mar;32(3):180-90. Epub 2009 Mar 6 doi: 10.1016/j.braindev.2009.02.002. PMID: 19269120

Recent systematic reviews

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. PMID: 26845288Free PMC Article
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2014 Jan 8;(1):CD008185. doi: 10.1002/14651858.CD008185.pub3. PMID: 24399699
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2011 Nov 9;(11):CD008185. doi: 10.1002/14651858.CD008185.pub2. PMID: 22071845

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