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Intellectual disability, X-linked 97(XLID97)

MedGen UID:
440689
•Concept ID:
C2749020
•
Mental or Behavioral Dysfunction
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97; XLID97
 
Gene (location): ZNF711 (Xq21.1)
 
Monarch Initiative: MONDO:0010430
OMIM®: 300803

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene. [from MONDO]

Clinical features

From HPO
Obesity
MedGen UID:
18127
•Concept ID:
C0028754
•
Disease or Syndrome
Accumulation of substantial excess body fat.
See: Feature record | Search on this feature
Macrotia
MedGen UID:
488785
•Concept ID:
C0152421
•
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
See: Feature record | Search on this feature
Intellectual disability, moderate
MedGen UID:
7680
•Concept ID:
C0026351
•
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
See: Feature record | Search on this feature
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
Autistic behavior
MedGen UID:
163547
•Concept ID:
C0856975
•
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
See: Feature record | Search on this feature
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
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
Long face
MedGen UID:
324419
•Concept ID:
C1836047
•
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
See: Feature record | Search on this feature
Prominent forehead
MedGen UID:
373291
•Concept ID:
C1837260
•
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
See: Feature record | Search on this feature
Broad face
MedGen UID:
349223
•Concept ID:
C1859680
•
Finding
Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
See: Feature record | Search on this feature
Synophrys
MedGen UID:
98132
•Concept ID:
C0431447
•
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF Jr, Macaya D, Turgeon CT, Tortorelli S, Raymond GV
Mol Genet Metab 2009 Jul;97(3):212-20. Epub 2009 Apr 1 doi: 10.1016/j.ymgme.2009.03.010. PMID: 19423374
Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.
Amir RE, Zoghbi HY
Am J Med Genet 2000 Summer;97(2):147-52. doi: 10.1002/1096-8628(200022)97:2<147::aid-ajmg6>3.0.co;2-o. PMID: 11180222

Recent clinical studies

Etiology

Time to Transplant in X-Linked Adrenoleukodystrophy.
Bonkowsky JL, Wilkes J
J Child Neurol 2022 Apr;37(5):397-400. Epub 2022 Mar 3 doi: 10.1177/08830738221081141. PMID: 35238239Free PMC Article
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Rattay TW, Rautenberg M, Söhn AS, Hengel H, Traschütz A, Röben B, Hayer SN, Schüle R, Wiethoff S, Zeltner L, Haack TB, Cegan A, Schöls L, Schleicher E, Peter A
Sci Rep 2020 Sep 15;10(1):15093. doi: 10.1038/s41598-020-71248-8. PMID: 32934269Free PMC Article
X-linked intellectual disability: Phenotypic expression in carrier females.
Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G
Clin Genet 2020 Mar;97(3):418-425. Epub 2019 Nov 24 doi: 10.1111/cge.13667. PMID: 31705537
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
González-Gutiérrez-Solana L, Guillén-Navarro E, Del Toro M, Dalmau J, González-Meneses A, Couce ML
Medicine (Baltimore) 2018 Jul;97(29):e11246. doi: 10.1097/MD.0000000000011246. PMID: 30024503Free PMC Article
In search of the MRX genes.
Toniolo D
Am J Med Genet 2000 Fall;97(3):221-7. doi: 10.1002/1096-8628(200023)97:3<221::AID-AJMG1040>3.0.CO;2-Q. PMID: 11449491

Diagnosis

Time to Transplant in X-Linked Adrenoleukodystrophy.
Bonkowsky JL, Wilkes J
J Child Neurol 2022 Apr;37(5):397-400. Epub 2022 Mar 3 doi: 10.1177/08830738221081141. PMID: 35238239Free PMC Article
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J
Clin Genet 2020 Apr;97(4):610-620. Epub 2020 Feb 23 doi: 10.1111/cge.13718. PMID: 32043567
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
González-Gutiérrez-Solana L, Guillén-Navarro E, Del Toro M, Dalmau J, González-Meneses A, Couce ML
Medicine (Baltimore) 2018 Jul;97(29):e11246. doi: 10.1097/MD.0000000000011246. PMID: 30024503Free 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
XLMR genes: update 2007.
Chiurazzi P, Schwartz CE, Gecz J, Neri G
Eur J Hum Genet 2008 Apr;16(4):422-34. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201994. PMID: 18197188

Therapy

X-linked intellectual disability: Phenotypic expression in carrier females.
Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G
Clin Genet 2020 Mar;97(3):418-425. Epub 2019 Nov 24 doi: 10.1111/cge.13667. PMID: 31705537
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
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
Muenzer J, Giugliani R, Scarpa M, Tylki-Szymańska A, Jego V, Beck M
Orphanet J Rare Dis 2017 Oct 3;12(1):161. doi: 10.1186/s13023-017-0712-3. PMID: 28974237Free 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
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II.
Wraith JE
Acta Paediatr 2008 Apr;97(457):76-8. doi: 10.1111/j.1651-2227.2008.00661.x. PMID: 18339193

Prognosis

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Rattay TW, Rautenberg M, Söhn AS, Hengel H, Traschütz A, Röben B, Hayer SN, Schüle R, Wiethoff S, Zeltner L, Haack TB, Cegan A, Schöls L, Schleicher E, Peter A
Sci Rep 2020 Sep 15;10(1):15093. doi: 10.1038/s41598-020-71248-8. PMID: 32934269Free 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
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
González-Gutiérrez-Solana L, Guillén-Navarro E, Del Toro M, Dalmau J, González-Meneses A, Couce ML
Medicine (Baltimore) 2018 Jul;97(29):e11246. doi: 10.1097/MD.0000000000011246. PMID: 30024503Free 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
Epilepsy in Rett syndrome---the experience of a National Rett Center.
Nissenkorn A, Gak E, Vecsler M, Reznik H, Menascu S, Ben Zeev B
Epilepsia 2010 Jul;51(7):1252-8. Epub 2010 May 13 doi: 10.1111/j.1528-1167.2010.02597.x. PMID: 20491871

Clinical prediction guides

A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y.
Nguyen TA, Wu K, Pandey S, Lehr AW, Li Y, Bemben MA, Badger JD 2nd, Lauzon JL, Wang T, Zaghloul KA, Thurm A, Jain M, Lu W, Roche KW
Neuron 2020 Jun 3;106(5):759-768.e7. Epub 2020 Apr 2 doi: 10.1016/j.neuron.2020.03.008. PMID: 32243781Free PMC Article
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J
Clin Genet 2020 Apr;97(4):610-620. Epub 2020 Feb 23 doi: 10.1111/cge.13718. PMID: 32043567
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
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J
Am J Hum Genet 2015 Aug 6;97(2):302-10. Epub 2015 Jul 9 doi: 10.1016/j.ajhg.2015.05.021. PMID: 26166480Free PMC Article
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
Habekost CT, Schestatsky P, Torres VF, de Coelho DM, Vargas CR, Torrez V, Oses JP, Portela LV, Pereira Fdos S, Matte U, Jardim LB
Orphanet J Rare Dis 2014 Jan 13;9:6. doi: 10.1186/1750-1172-9-6. PMID: 24410807Free PMC Article

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      Clinical tests in GTR
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