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Intellectual disability, X-linked 100(XLID100)

MedGen UID:
855516
•Concept ID:
C3890167
•
Disease or Syndrome
Synonym: XLID100
 
Gene (location): KIF4A (Xq13.1)
 
Monarch Initiative: MONDO:0010488
OMIM®: 300923

Definition

X-linked intellectual developmental disorder-100 (XLID100) is an X-linked recessive disorder characterized by a neurodevelopmental phenotype with impaired intellectual development with or without epilepsy. The phenotypic spectrum also includes hydrocephalus, either isolated or associated with other congenital anomalies, predominantly of the brain, kidneys, and urinary tract (summary by Kalantari et al., 2021). [from OMIM]

Clinical features

From HPO
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
Bilateral tonic-clonic seizure
MedGen UID:
141670
•Concept ID:
C0494475
•
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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
Generalized non-motor (absence) seizure
MedGen UID:
1385688
•Concept ID:
C4316903
•
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
See: Feature record | Search on this feature
Abnormal facial shape
MedGen UID:
98409
•Concept ID:
C0424503
•
Finding
An abnormal morphology (form) of the face or its components.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E
Mol Genet Metab 2024 Jun;142(2):108472. Epub 2024 Apr 23 doi: 10.1016/j.ymgme.2024.108472. PMID: 38703411Free PMC Article
A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population.
Tang C, Tang F, Cai Y, Tan M, Liu S, Xie T, Jiang X, Huang Y
Clin Chim Acta 2024 Jan 1;552:117653. Epub 2023 Nov 15 doi: 10.1016/j.cca.2023.117653. PMID: 37977233
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R
Int J Mol Sci 2020 Feb 13;21(4) doi: 10.3390/ijms21041258. PMID: 32070051Free PMC Article

Recent clinical studies

Etiology

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J
EBioMedicine 2023 Oct;96:104781. Epub 2023 Sep 7 doi: 10.1016/j.ebiom.2023.104781. PMID: 37683329Free PMC Article
Evolution of adrenoleukodystrophy model systems.
Montoro R, Heine VM, Kemp S, Engelen M
J Inherit Metab Dis 2021 May;44(3):544-553. Epub 2021 Jan 7 doi: 10.1002/jimd.12357. PMID: 33373044Free PMC Article
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
Mol Psychiatry 2016 Jan;21(1):133-48. Epub 2015 Feb 3 doi: 10.1038/mp.2014.193. PMID: 25644381Free 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
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article

Diagnosis

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J
EBioMedicine 2023 Oct;96:104781. Epub 2023 Sep 7 doi: 10.1016/j.ebiom.2023.104781. PMID: 37683329Free PMC Article
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
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R
Int J Mol Sci 2020 Feb 13;21(4) doi: 10.3390/ijms21041258. PMID: 32070051Free PMC Article
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free 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

Therapy

X-chromosome inactivation: implications in human disease.
Pereira G, Dória S
J Genet 2021;100 PMID: 34553695
CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.
Kang Q, Yang L, Liao H, Wu L, Chen B, Yang S, Kuang X, Yang H, Liao C
Medicine (Baltimore) 2021 Jun 11;100(23):e26093. doi: 10.1097/MD.0000000000026093. PMID: 34114993Free PMC Article
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.
Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F
Sci Transl Med 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109. PMID: 26764156
Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.
Fu F, Liu HL, Li R, Han J, Yang X, Min P, Zhen L, Zhang YL, Xie GE, Lei TY, Li Y, Li J, Li DZ, Liao C
Gene 2014 Aug 10;546(2):222-5. Epub 2014 Jun 7 doi: 10.1016/j.gene.2014.06.012. PMID: 24914495

Prognosis

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J
EBioMedicine 2023 Oct;96:104781. Epub 2023 Sep 7 doi: 10.1016/j.ebiom.2023.104781. PMID: 37683329Free PMC Article
A molecular genetics view on Mucopolysaccharidosis Type II.
Verma S, Pantoom S, Petters J, Pandey AK, Hermann A, Lukas J
Mutat Res Rev Mutat Res 2021 Jul-Dec;788:108392. Epub 2021 Aug 8 doi: 10.1016/j.mrrev.2021.108392. PMID: 34893157
Compromised immune/inflammatory responses in Rett syndrome.
Pecorelli A, Cervellati C, Cordone V, Hayek J, Valacchi G
Free Radic Biol Med 2020 May 20;152:100-106. Epub 2020 Feb 28 doi: 10.1016/j.freeradbiomed.2020.02.023. PMID: 32119978
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free 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

Clinical prediction guides

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J
EBioMedicine 2023 Oct;96:104781. Epub 2023 Sep 7 doi: 10.1016/j.ebiom.2023.104781. PMID: 37683329Free PMC Article
A molecular genetics view on Mucopolysaccharidosis Type II.
Verma S, Pantoom S, Petters J, Pandey AK, Hermann A, Lukas J
Mutat Res Rev Mutat Res 2021 Jul-Dec;788:108392. Epub 2021 Aug 8 doi: 10.1016/j.mrrev.2021.108392. PMID: 34893157
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free 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

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