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High myopia-sensorineural deafness syndrome(DFNMYP)

MedGen UID:
812605
•Concept ID:
C3806275
•
Disease or Syndrome
Synonyms: Deafness and myopia; Deafness and Myopia Syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SLITRK6 (13q31.1)
 
Monarch Initiative: MONDO:0009082
OMIM®: 221200
Orphanet: ORPHA363396

Disease characteristics

Excerpted from the GeneReview: Deafness and Myopia Syndrome
Deafness and myopia (DFNMYP) syndrome is characterized by bilateral, congenital or prelingual deafness (sensorineural hearing loss or auditory neuropathy spectrum disorder) and high myopia (>-6 diopters). In individuals with a molecularly confirmed diagnosis reported to date, hearing loss was progressive and severity ranged from moderate to profound. Vestibular testing was normal. Myopia was diagnosed at infancy or early childhood. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Jessica L Ordonez  |  Mustafa Tekin   view full author information

Additional description

From MedlinePlus Genetics
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual).

Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.  https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature
High myopia
MedGen UID:
78759
•Concept ID:
C0271183
•
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHigh myopia-sensorineural deafness syndrome

Professional guidelines

PubMed

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
Hefner MA, Fassi E
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):407-416. Epub 2017 Oct 31 doi: 10.1002/ajmg.c.31589. PMID: 29088501
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC
Orphanet J Rare Dis 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. PMID: 23642083Free PMC Article

Recent clinical studies

Etiology

High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.
Menon JC, Singh P, Archana A, Singh P, Mittal M, Kanga U, Mandal K, Seth A, Bhatia V, Dabadghao P, Sudhanshu S, Garg A, Vishwakarma R, Sarangi AN, Verma S, Singh SK, Bhatia E
J Clin Endocrinol Metab 2024 Feb 20;109(3):e1072-e1082. doi: 10.1210/clinem/dgad644. PMID: 37931151
Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients.
Nakamichi K, Van Gelder RN, Chao JR, Mustafi D
Sci Rep 2023 May 26;13(1):8535. doi: 10.1038/s41598-023-35791-4. PMID: 37237007Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Nephrotic syndrome and mitochondrial disorders: answers.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E
Pediatr Nephrol 2019 Aug;34(8):1375-1377. Epub 2019 Mar 12 doi: 10.1007/s00467-019-04217-7. PMID: 30863911
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J
Eur J Hum Genet 2014 Jan;22(1):99-104. Epub 2013 Apr 17 doi: 10.1038/ejhg.2013.72. PMID: 23591405Free PMC Article

Diagnosis

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.
Wu J, Cao Z, Su Y, Wang Y, Cai R, Chen J, Gao B, Han M, Li X, Zhang D, Gao X, Huang S, Huang Q, Yuan Y, Ma X, Dai P
J Hum Genet 2022 Nov;67(11):643-649. Epub 2022 Aug 19 doi: 10.1038/s10038-022-01066-5. PMID: 35982127Free PMC Article
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
J Med Genet 2019 Oct;56(10):662-670. Epub 2019 Jun 17 doi: 10.1136/jmedgenet-2018-105691. PMID: 31213501
Genetics of Hearing Loss: Syndromic.
Koffler T, Ushakov K, Avraham KB
Otolaryngol Clin North Am 2015 Dec;48(6):1041-61. Epub 2015 Oct 9 doi: 10.1016/j.otc.2015.07.007. PMID: 26443487Free PMC Article
High-throughput sequencing to decipher the genetic heterogeneity of deafness.
Brownstein Z, Bhonker Y, Avraham KB
Genome Biol 2012 May 29;13(5):245. doi: 10.1186/gb-2012-13-5-245. PMID: 22647651Free PMC Article

Therapy

Delivering genetic education and genetic counseling for rare diseases in rural Brazil.
Acosta AX, Abé-Sandes K, Giugliani R, Bittles AH
J Genet Couns 2013 Dec;22(6):830-4. Epub 2013 Jan 22 doi: 10.1007/s10897-013-9570-x. PMID: 23338802
Could the United States experience rubella outbreaks as a result of vaccine refusal and disease importation?
Berger BE, Omer SB
Hum Vaccin 2010 Dec;6(12):1016-20. Epub 2010 Dec 1 doi: 10.4161/hv.6.12.13398. PMID: 21150305
Role of connexin 26 (GJB2) & mitochondrial small ribosomal RNA (mt 12S rRNA) genes in sporadic & aminoglycoside-induced non syndromic hearing impairment.
Lingala HB; Sankarathi, Penagaluru PR
Indian J Med Res 2009 Oct;130(4):369-78. PMID: 19942739
Is there a role for potassium channel openers in neuronal ion channel disorders?
Lawson K
Expert Opin Investig Drugs 2000 Oct;9(10):2269-80. doi: 10.1517/13543784.9.10.2269. PMID: 11060806
Thiamine-responsive inborn errors of metabolism.
Duran M, Wadman SK
J Inherit Metab Dis 1985;8 Suppl 1:70-5. doi: 10.1007/BF01800663. PMID: 3930844

Prognosis

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.
Lachgar-Ruiz M, Morín M, Martelletti E, Ingham NJ, Preite L, Lewis MA, Serrão de Castro LS, Steel KP, Moreno-Pelayo MÁ
Dis Model Mech 2023 Aug 1;16(8) Epub 2023 Aug 17 doi: 10.1242/dmm.049757. PMID: 37165931Free PMC Article
Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.
Boudewyns A, van den Ende J, Peeters N, Van Camp G, Hofkens-Van den Brandt A, Van Schil K, Wouters K, Wuyts W
Otol Neurotol 2023 Apr 1;44(4):360-366. Epub 2023 Feb 20 doi: 10.1097/MAO.0000000000003841. PMID: 36804529
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
Gao FJ, Wang DD, Chen F, Sun HX, Hu FY, Xu P, Li J, Liu W, Qi YH, Li W, Wang M, Zhang S, Xu GZ, Chang Q, Wu JH
Br J Ophthalmol 2021 Jan;105(1):87-92. Epub 2020 Mar 18 doi: 10.1136/bjophthalmol-2020-315878. PMID: 32188678Free PMC Article
Brown-Vialetto-Van Laere syndrome: A rare case report of MND mimic.
Kranthi P, Garuda BR, Gopi S, Kumar TS
Neurol India 2020 Sep-Oct;68(5):1217-1219. doi: 10.4103/0028-3886.299175. PMID: 33109881
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. PMID: 24729539Free PMC Article

Clinical prediction guides

High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.
Menon JC, Singh P, Archana A, Singh P, Mittal M, Kanga U, Mandal K, Seth A, Bhatia V, Dabadghao P, Sudhanshu S, Garg A, Vishwakarma R, Sarangi AN, Verma S, Singh SK, Bhatia E
J Clin Endocrinol Metab 2024 Feb 20;109(3):e1072-e1082. doi: 10.1210/clinem/dgad644. PMID: 37931151
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation.
Bałdyga N, Oziębło D, Gan N, Furmanek M, Leja ML, Skarżyński H, Ołdak M
Genes (Basel) 2023 Jan 28;14(2) doi: 10.3390/genes14020335. PMID: 36833263Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Perinatal viral infections.
Ueda K, Tokugawa K, Kusuhara K
Early Hum Dev 1992 Jun-Jul;29(1-3):131-5. doi: 10.1016/0378-3782(92)90127-3. PMID: 1396225
Thiamine-responsive inborn errors of metabolism.
Duran M, Wadman SK
J Inherit Metab Dis 1985;8 Suppl 1:70-5. doi: 10.1007/BF01800663. PMID: 3930844

Recent systematic reviews

Hearing Loss in Exfoliation Syndrome: Systematic Review and Meta-Analysis.
Shih MC, Gordis TM, Lambert PR, Nguyen SA, Meyer TA
Laryngoscope 2023 May;133(5):1025-1035. Epub 2022 Sep 10 doi: 10.1002/lary.30384. PMID: 36087028
Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.
Manyisa N, Adadey SM, Wonkam-Tingang E, Yalcouye A, Wonkam A
OMICS 2022 Jan;26(1):2-18. doi: 10.1089/omi.2021.0181. PMID: 35041532Free PMC Article
Betahistine in Ménière's Disease or Syndrome: A Systematic Review.
Van Esch B, van der Zaag-Loonen H, Bruintjes T, van Benthem PP
Audiol Neurootol 2022;27(1):1-33. Epub 2021 Jul 7 doi: 10.1159/000515821. PMID: 34233329
The otolaryngologic manifestations of Sotos syndrome 1: A systematic review.
Danis DO 3rd, Bodamer O, Levi JR
Int J Pediatr Otorhinolaryngol 2021 Apr;143:110649. Epub 2021 Feb 12 doi: 10.1016/j.ijporl.2021.110649. PMID: 33640723
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS
Otol Neurotol 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. PMID: 30531642

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