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Hearing loss, X-linked 6(DFNX6)

MedGen UID:
813067
•Concept ID:
C3806737
•
Disease or Syndrome
Synonym: Deafness, X-linked 6
 
Gene (location): COL4A6 (Xq22.3)
 
Monarch Initiative: MONDO:0010484
OMIM®: 300914

Definition

Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene. [from MONDO]

Clinical features

From HPO
Bilateral sensorineural hearing impairment
MedGen UID:
96788
•Concept ID:
C0452138
•
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
See: Feature record | Search on this feature
Incomplete partition of the cochlea
MedGen UID:
868978
•Concept ID:
C4023392
•
Anatomical Abnormality
Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
Chen LS, Yu CW, Li WJ, Hsieh WC, Li YP
J Hum Genet 2024 Apr;69(3-4):115-118. Epub 2023 Dec 22 doi: 10.1038/s10038-023-01212-7. PMID: 38135707
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M
PLoS One 2016;11(9):e0161802. Epub 2016 Sep 14 doi: 10.1371/journal.pone.0161802. PMID: 27627812Free PMC Article
Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance models.
Huang S, Wang G, Jiang Y, Yuan Y, Han D, Song Y, Dai P
Mitochondrion 2013 Nov;13(6):791-4. Epub 2013 May 18 doi: 10.1016/j.mito.2013.05.004. PMID: 23688906

Recent clinical studies

Etiology

Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.
Bosman A, Appelman-Dijkstra NM, Boot AM, de Borst MH, van de Ven AC, de Jongh RT, Bökenkamp A, van den Bergh JP, van der Eerden BCJ, Zillikens MC
Calcif Tissue Int 2024 Mar;114(3):255-266. Epub 2024 Jan 16 doi: 10.1007/s00223-023-01172-2. PMID: 38226986Free PMC Article
X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4.
Smeds H, Wales J, Karltorp E, Anderlid BM, Henricson C, Asp F, Anmyr L, Lagerstedt-Robinson K, Löfkvist U
Ear Hear 2022 Jan/Feb;43(1):53-69. doi: 10.1097/AUD.0000000000001073. PMID: 34133399Free PMC Article
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review.
Hong R, Du Q, Pan Y
AJNR Am J Neuroradiol 2020 Jun;41(6):1076-1080. Epub 2020 May 28 doi: 10.3174/ajnr.A6576. PMID: 32467182Free PMC Article
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J
Pediatr Nephrol 2014 Mar;29(3):391-6. Epub 2013 Nov 2 doi: 10.1007/s00467-013-2643-0. PMID: 24178893

Diagnosis

Screening copy number variations in 35 unsolved inherited retinal disease families.
Liu X, Dai H, Li G, Jia R, Meng X, Yu S, Yang L, Hong J
Hum Genet 2024 Feb;143(2):197-210. Epub 2024 Jan 29 doi: 10.1007/s00439-023-02631-4. PMID: 38282009Free PMC Article
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.
Bosman A, Appelman-Dijkstra NM, Boot AM, de Borst MH, van de Ven AC, de Jongh RT, Bökenkamp A, van den Bergh JP, van der Eerden BCJ, Zillikens MC
Calcif Tissue Int 2024 Mar;114(3):255-266. Epub 2024 Jan 16 doi: 10.1007/s00223-023-01172-2. PMID: 38226986Free PMC Article
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Characterization of vertigo and hearing loss in patients with Fabry disease.
Köping M, Shehata-Dieler W, Schneider D, Cebulla M, Oder D, Müntze J, Nordbeck P, Wanner C, Hagen R, Schraven SP
Orphanet J Rare Dis 2018 Aug 15;13(1):137. doi: 10.1186/s13023-018-0882-7. PMID: 30111353Free PMC Article
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J
Pediatr Nephrol 2014 Mar;29(3):391-6. Epub 2013 Nov 2 doi: 10.1007/s00467-013-2643-0. PMID: 24178893

Therapy

Major Organic Involvement in Women with Fabry Disease in Argentina.
Perretta F, Antongiovanni N, Jaurretche S
ScientificWorldJournal 2018;2018:6515613. Epub 2018 May 21 doi: 10.1155/2018/6515613. PMID: 29950951Free PMC Article
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M
PLoS One 2016;11(9):e0161802. Epub 2016 Sep 14 doi: 10.1371/journal.pone.0161802. PMID: 27627812Free PMC Article
Spastic paraparesis and sensorineural hearing loss in a patient with neurobrucellosis.
Baykal T, Baygutalp F, Senel K, Levent A, Erdal A, Ugur M, Ozgocmen S
J Back Musculoskelet Rehabil 2012;25(3):157-9. doi: 10.3233/BMR-2012-0322. PMID: 23077765
Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.
Kienitz T, Ventz M, Kaminsky E, Quinkler M
Exp Clin Endocrinol Diabetes 2011 Jul;119(7):431-5. Epub 2011 May 6 doi: 10.1055/s-0031-1277162. PMID: 21553362
Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy.
Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A
J Inherit Metab Dis 2003;26(8):787-94. doi: 10.1023/B:BOLI.0000009948.86528.72. PMID: 14739683

Prognosis

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Corneal endothelial cell abnormalities in X-linked Alport syndrome.
Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J
Ophthalmic Genet 2020 Feb;41(1):13-19. Epub 2020 Mar 11 doi: 10.1080/13816810.2019.1709126. PMID: 32159412
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J
BMC Med Genomics 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5. PMID: 29986705Free PMC Article
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M
PLoS One 2016;11(9):e0161802. Epub 2016 Sep 14 doi: 10.1371/journal.pone.0161802. PMID: 27627812Free PMC Article
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J
Pediatr Nephrol 2014 Mar;29(3):391-6. Epub 2013 Nov 2 doi: 10.1007/s00467-013-2643-0. PMID: 24178893

Clinical prediction guides

Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.
Bosman A, Appelman-Dijkstra NM, Boot AM, de Borst MH, van de Ven AC, de Jongh RT, Bökenkamp A, van den Bergh JP, van der Eerden BCJ, Zillikens MC
Calcif Tissue Int 2024 Mar;114(3):255-266. Epub 2024 Jan 16 doi: 10.1007/s00223-023-01172-2. PMID: 38226986Free PMC Article
Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
Micevych PS, Wong J, Zhou H, Wang RK, Porco TC, Carroll J, Roorda A, Duncan JL
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Long-term outcome among females with Alport syndrome from a single pediatric center.
Goka S, Copelovitch L, Levy Erez D
Pediatr Nephrol 2021 Apr;36(4):945-951. Epub 2020 Oct 13 doi: 10.1007/s00467-020-04748-4. PMID: 33048202Free PMC Article
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M
PLoS One 2016;11(9):e0161802. Epub 2016 Sep 14 doi: 10.1371/journal.pone.0161802. PMID: 27627812Free PMC Article
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J
Pediatr Nephrol 2014 Mar;29(3):391-6. Epub 2013 Nov 2 doi: 10.1007/s00467-013-2643-0. PMID: 24178893

Recent systematic reviews

WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.
Zicari AM, Tarani L, Perotti D, Papetti L, Nicita F, Liberati N, Spalice A, Salvatori G, Guaraldi F, Duse M
Ital J Pediatr 2012 Jun 20;38:27. doi: 10.1186/1824-7288-38-27. PMID: 22716240Free PMC Article

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