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Dyslexia, susceptibility to, 1(DYX1)

MedGen UID:
338828
Concept ID:
C1851967
Finding
Synonyms: Dyslexia 1; READING DISABILITY, SPECIFIC, 1; WORD-BLINDNESS, CONGENITAL
 
Gene (location): DNAAF4 (15q21.3)
 
Monarch Initiative: MONDO:0007487
OMIM®: 127700

Definition

Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007). Genetic Heterogeneity of Susceptibility to Dyslexia Additional dyslexia susceptibility loci include DYX2 (600202) on chromosome 6p22, DYX3 (604254) on chromosome 2p16-p15, DYX5 (606896) on chromosome 3p12-q13, DYX6 (606616) on chromosome 18p11.2, DYX8 (608995) on chromosome 1p36-p34, and DYX9 (300509) on chromosome Xq27.3. See MAPPING for other possible dyslexia susceptibility loci, including DYX4 and DYX7. [from OMIM]

Clinical features

From HPO
Abnormality of speech or vocalization
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
Dyslexia
MedGen UID:
96906
Concept ID:
C0476254
Mental or Behavioral Dysfunction
A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).

Professional guidelines

PubMed

Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J
Hum Mutat 2020 Jan;41(1):17-37. Epub 2019 Sep 15 doi: 10.1002/humu.23899. PMID: 31448844
Trezzi V, Forni D, Giorda R, Villa M, Molteni M, Marino C, Mascheretti S
J Hum Genet 2017 Nov;62(11):949-955. Epub 2017 Aug 3 doi: 10.1038/jhg.2017.80. PMID: 29066855

Recent clinical studies

Etiology

Zhu K, Liu Q, Xie X, Jiang Q, Feng Y, Xiao P, Wu X, Zhu B, Song R
Neurotoxicology 2022 Sep;92:102-109. Epub 2022 Aug 5 doi: 10.1016/j.neuro.2022.08.004. PMID: 35940320
Sanfilippo J, Ness M, Petscher Y, Rappaport L, Zuckerman B, Gaab N
Pediatrics 2020 Jul;146(1) Epub 2020 Jun 23 doi: 10.1542/peds.2019-3046. PMID: 32576595Free PMC Article
Kuhl U, Neef NE, Kraft I, Schaadt G, Dörr L, Brauer J, Czepezauer I, Müller B, Wilcke A, Kirsten H, Emmrich F, Boltze J, Friederici AD, Skeide MA
Neuroimage 2020 May 1;211:116633. Epub 2020 Feb 12 doi: 10.1016/j.neuroimage.2020.116633. PMID: 32061802
Mascheretti S, De Luca A, Trezzi V, Peruzzo D, Nordio A, Marino C, Arrigoni F
Transl Psychiatry 2017 Jan 3;7(1):e987. doi: 10.1038/tp.2016.240. PMID: 28045463Free PMC Article
Mather DS, Milford TM, Mcrae LM
Percept Mot Skills 2015 Oct;121(2):569-601. Epub 2015 Oct 16 doi: 10.2466/15.10.PMS.121c21x5. PMID: 26474440

Diagnosis

Sanfilippo J, Ness M, Petscher Y, Rappaport L, Zuckerman B, Gaab N
Pediatrics 2020 Jul;146(1) Epub 2020 Jun 23 doi: 10.1542/peds.2019-3046. PMID: 32576595Free PMC Article
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J
Hum Mutat 2020 Jan;41(1):17-37. Epub 2019 Sep 15 doi: 10.1002/humu.23899. PMID: 31448844
Mascheretti S, De Luca A, Trezzi V, Peruzzo D, Nordio A, Marino C, Arrigoni F
Transl Psychiatry 2017 Jan 3;7(1):e987. doi: 10.1038/tp.2016.240. PMID: 28045463Free PMC Article
Mather DS, Milford TM, Mcrae LM
Percept Mot Skills 2015 Oct;121(2):569-601. Epub 2015 Oct 16 doi: 10.2466/15.10.PMS.121c21x5. PMID: 26474440
McGrath LM, Smith SD, Pennington BF
Trends Mol Med 2006 Jul;12(7):333-41. Epub 2006 Jun 16 doi: 10.1016/j.molmed.2006.05.007. PMID: 16781891

Therapy

Zhu K, Liu Q, Xie X, Jiang Q, Feng Y, Xiao P, Wu X, Zhu B, Song R
Neurotoxicology 2022 Sep;92:102-109. Epub 2022 Aug 5 doi: 10.1016/j.neuro.2022.08.004. PMID: 35940320
Yeung SS, Savage R
J Learn Disabil 2020 Mar/Apr;53(2):131-144. Epub 2019 Dec 21 doi: 10.1177/0022219419894563. PMID: 31868074
Mascheretti S, Bureau A, Battaglia M, Simone D, Quadrelli E, Croteau J, Cellino MR, Giorda R, Beri S, Maziade M, Marino C
Genes Brain Behav 2013 Feb;12(1):47-55. Epub 2012 Nov 24 doi: 10.1111/gbb.12000. PMID: 23176554
Dahdouh F, Anthoni H, Tapia-Páez I, Peyrard-Janvid M, Schulte-Körne G, Warnke A, Remschmidt H, Ziegler A, Kere J, Müller-Myhsok B, Nöthen MM, Schumacher J, Zucchelli M
Psychiatr Genet 2009 Apr;19(2):59-63. doi: 10.1097/YPG.0b013e32832080e1. PMID: 19240663
Harold D, Paracchini S, Scerri T, Dennis M, Cope N, Hill G, Moskvina V, Walter J, Richardson AJ, Owen MJ, Stein JF, Green ED, O'Donovan MC, Williams J, Monaco AP
Mol Psychiatry 2006 Dec;11(12):1085-91, 1061. Epub 2006 Oct 10 doi: 10.1038/sj.mp.4001904. PMID: 17033633

Prognosis

Kuhl U, Neef NE, Kraft I, Schaadt G, Dörr L, Brauer J, Czepezauer I, Müller B, Wilcke A, Kirsten H, Emmrich F, Boltze J, Friederici AD, Skeide MA
Neuroimage 2020 May 1;211:116633. Epub 2020 Feb 12 doi: 10.1016/j.neuroimage.2020.116633. PMID: 32061802
Seifan A, Shih C, Hackett K, Pensack MJ, Schelke MW, Lin M, Patel H, Ganzer CA, Ahmed M, Krikorian R, Tamboer P, Henriquez AM, Isaacson RS, Steinhof S
Res Dev Disabil 2018 Jun;77:60-67. Epub 2018 Apr 16 doi: 10.1016/j.ridd.2018.03.009. PMID: 29660590
Verpalen A, Van de Vijver F, Backus A
Ann Dyslexia 2018 Apr;68(1):43-68. Epub 2018 Feb 23 doi: 10.1007/s11881-018-0155-0. PMID: 29476315Free PMC Article
Romani C, Tsouknida E, Olson A
Q J Exp Psychol (Hove) 2015;68(1):99-128. Epub 2014 Sep 23 doi: 10.1080/17470218.2014.938666. PMID: 25246235Free PMC Article
McGrath LM, Smith SD, Pennington BF
Trends Mol Med 2006 Jul;12(7):333-41. Epub 2006 Jun 16 doi: 10.1016/j.molmed.2006.05.007. PMID: 16781891

Clinical prediction guides

Gialluisi A, Andlauer TFM, Mirza-Schreiber N, Moll K, Becker J, Hoffmann P, Ludwig KU, Czamara D, Pourcain BS, Honbolygó F, Tóth D, Csépe V, Huguet G, Chaix Y, Iannuzzi S, Demonet JF, Morris AP, Hulslander J, Willcutt EG, DeFries JC, Olson RK, Smith SD, Pennington BF, Vaessen A, Maurer U, Lyytinen H, Peyrard-Janvid M, Leppänen PHT, Brandeis D, Bonte M, Stein JF, Talcott JB, Fauchereau F, Wilcke A, Kirsten H, Müller B, Francks C, Bourgeron T, Monaco AP, Ramus F, Landerl K, Kere J, Scerri TS, Paracchini S, Fisher SE, Schumacher J, Nöthen MM, Müller-Myhsok B, Schulte-Körne G
Mol Psychiatry 2021 Jul;26(7):3004-3017. Epub 2020 Oct 14 doi: 10.1038/s41380-020-00898-x. PMID: 33057169Free PMC Article
Kuhl U, Neef NE, Kraft I, Schaadt G, Dörr L, Brauer J, Czepezauer I, Müller B, Wilcke A, Kirsten H, Emmrich F, Boltze J, Friederici AD, Skeide MA
Neuroimage 2020 May 1;211:116633. Epub 2020 Feb 12 doi: 10.1016/j.neuroimage.2020.116633. PMID: 32061802
Gabel LA, Manglani M, Escalona N, Cysner J, Hamilton R, Pfaffmann J, Johnson E
Ann Dyslexia 2016 Oct;66(3):319-336. Epub 2016 Mar 24 doi: 10.1007/s11881-016-0125-3. PMID: 27013331
Peter B, Matsushita M, Oda K, Raskind W
Am J Med Genet A 2014 Aug;164A(8):2091-6. Epub 2014 May 8 doi: 10.1002/ajmg.a.36599. PMID: 24810580
McGrath LM, Smith SD, Pennington BF
Trends Mol Med 2006 Jul;12(7):333-41. Epub 2006 Jun 16 doi: 10.1016/j.molmed.2006.05.007. PMID: 16781891

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