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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

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 epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S
Sci Rep 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. PMID: 36460718Free 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
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
Neurotoxicity of cobalt.
Catalani S, Rizzetti MC, Padovani A, Apostoli P
Hum Exp Toxicol 2012 May;31(5):421-37. Epub 2011 Jul 5 doi: 10.1177/0960327111414280. PMID: 21729976

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
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S
Sci Rep 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. PMID: 36460718Free 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

Therapy

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Audiol Neurootol 2022;27(1):1-33. Epub 2021 Jul 7 doi: 10.1159/000515821. PMID: 34233329
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090Free PMC Article
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Neurotoxicity of cobalt.
Catalani S, Rizzetti MC, Padovani A, Apostoli P
Hum Exp Toxicol 2012 May;31(5):421-37. Epub 2011 Jul 5 doi: 10.1177/0960327111414280. PMID: 21729976

Prognosis

A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases.
Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M
Genes (Basel) 2023 Aug 8;14(8) doi: 10.3390/genes14081601. PMID: 37628652Free PMC Article
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090Free PMC Article
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
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article

Clinical prediction guides

A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases.
Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M
Genes (Basel) 2023 Aug 8;14(8) doi: 10.3390/genes14081601. PMID: 37628652Free 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
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR
Eur J Hum Genet 2015 Oct;23(10):1318-27. Epub 2015 Feb 4 doi: 10.1038/ejhg.2014.283. PMID: 25649381Free PMC Article

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
Betahistine in Ménière's Disease or Syndrome: A Systematic Review.
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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
Systematic Review of Pathogenic GJB2 Variants in the Latino Population.
Bouzaher MH, Worden CP, Jeyakumar A
Otol Neurotol 2020 Feb;41(2):e182-e191. doi: 10.1097/MAO.0000000000002505. PMID: 31834214
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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