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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.
See: Feature record | Search on this feature

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
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
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS
J Med Genet 2013 Jul;50(7):463-72. Epub 2013 May 3 doi: 10.1136/jmedgenet-2013-101658. PMID: 23644449

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
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS
Neurology 2019 Apr 9;92(15):e1698-e1708. Epub 2019 Mar 22 doi: 10.1212/WNL.0000000000007294. PMID: 30902905Free 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
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

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
Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder.
Voronin G, Narasimhan J, Gittens J, Sheedy J, Lipari P, Peters M, DeMarco S, Cao L, Varganov Y, Kim MJ, Pear L, Fotouh E, Sinha S, Ray B, Wu MC, Yalamanchili P, Southgate C, Pick J, Saadipour K, Jung S, Lee J, Mollin A, Welch EM, Wu Z, Weetall M
Mol Ther 2024 Oct 2;32(10):3331-3345. Epub 2024 Jul 20 doi: 10.1016/j.ymthe.2024.07.012. PMID: 39033321Free 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
Neurological findings in incontinentia pigmenti; a review.
Meuwissen ME, Mancini GM
Eur J Med Genet 2012 May;55(5):323-31. Epub 2012 May 4 doi: 10.1016/j.ejmg.2012.04.007. PMID: 22564885
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

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS
Neurology 2019 Apr 9;92(15):e1698-e1708. Epub 2019 Mar 22 doi: 10.1212/WNL.0000000000007294. PMID: 30902905Free 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
Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.
Guimarães CP, Sá-Miranda C, Azevedo JE
J Hum Genet 2005;50(2):99-105. Epub 2005 Jan 29 doi: 10.1007/s10038-004-0226-4. PMID: 15682271
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11.
Strømme P, Sundet K, Mørk C, Cassiman JJ, Fryns JP, Claes S
J Med Genet 1999 May;36(5):374-8. PMID: 10353782Free PMC Article

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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