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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
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).
Abnormal speech pattern
MedGen UID:
1853271
Concept ID:
C3687424
Finding
An abnormality in the sound (volume) or cadence (rate) of speech.

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
Francks C, MacPhie IL, Monaco AP
Lancet Neurol 2002 Dec;1(8):483-90. doi: 10.1016/s1474-4422(02)00221-1. PMID: 12849333

Therapy

Yang Y, Zheng T, Tang Q, Xiang B, Yang M, Zeng J, Zhou F, Xie X
BMC Psychiatry 2024 Jul 17;24(1):509. doi: 10.1186/s12888-024-05952-4. PMID: 39020327Free PMC Article
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
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
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
Skeide MA, Kirsten H, Kraft I, Schaadt G, Müller B, Neef N, Brauer J, Wilcke A, Emmrich F, Boltze J, Friederici AD
Neuroimage 2015 Sep;118:414-21. Epub 2015 Jun 12 doi: 10.1016/j.neuroimage.2015.06.024. PMID: 26080313
Veerappa AM, Saldanha M, Padakannaya P, Ramachandra NB
Am J Med Genet B Neuropsychiatr Genet 2014 Oct;165B(7):572-80. Epub 2014 Aug 19 doi: 10.1002/ajmg.b.32260. PMID: 25139666
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

Yang Y, Zheng T, Tang Q, Xiang B, Yang M, Zeng J, Zhou F, Xie X
BMC Psychiatry 2024 Jul 17;24(1):509. doi: 10.1186/s12888-024-05952-4. PMID: 39020327Free 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
Eicher JD, Montgomery AM, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, Casey BJ, Chang L, Ernst T, Frazier J, Kaufmann WE, Keating B, Kenet T, Kennedy D, Mostofsky S, Murray SS, Sowell ER, Bartsch H, Kuperman JM, Brown TT, Hagler DJ Jr, Dale AM, Jernigan TL, Gruen JR; Pediatric Imaging Neurocognition Genetics Study
Brain Imaging Behav 2016 Mar;10(1):272-82. doi: 10.1007/s11682-015-9392-6. PMID: 25953057Free 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

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