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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.
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).
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.
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.
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
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.
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).
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
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).
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.

Professional guidelines

PubMed

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
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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
Wraith JE
Acta Paediatr 2008 Apr;97(457):76-8. doi: 10.1111/j.1651-2227.2008.00661.x. PMID: 18339193

Prognosis

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
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
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
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
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

Pan YE, Tibbe D, Harms FL, Reißner C, Becker K, Dingmann B, Mirzaa G, Kattentidt-Mouravieva AA, Shoukier M, Aggarwal S, Missler M, Kutsche K, Kreienkamp HJ
J Neurochem 2021 May;157(4):1331-1350. Epub 2020 Nov 4 doi: 10.1111/jnc.15215. PMID: 33090494
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
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
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
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

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