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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
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
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
A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.
Prat Matifoll JA, Wilson M, Goetti R, Birman C, Bennett B, Peadon E, Prats-Uribe A, Prelog K
AJNR Am J Neuroradiol 2020 Jun;41(6):1087-1093. Epub 2020 May 14 doi: 10.3174/ajnr.A6541. PMID: 32409310Free PMC Article
Musculoskeletal manifestations of Fabry disease: A retrospective study.
Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993

Diagnosis

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
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
A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.
Prat Matifoll JA, Wilson M, Goetti R, Birman C, Bennett B, Peadon E, Prats-Uribe A, Prelog K
AJNR Am J Neuroradiol 2020 Jun;41(6):1087-1093. Epub 2020 May 14 doi: 10.3174/ajnr.A6541. PMID: 32409310Free PMC Article
Musculoskeletal manifestations of Fabry disease: A retrospective study.
Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993
Opinion: Ocular features aid the diagnosis of Alport syndrome.
Savige J, Colville D
Nat Rev Nephrol 2009 Jun;5(6):356-60. doi: 10.1038/nrneph.2009.65. PMID: 19474829

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
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
Musculoskeletal manifestations of Fabry disease: A retrospective study.
Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome.
Bayram M, Yildirim M, Seymen F
Eur Arch Paediatr Dent 2015 Feb;16(1):63-6. Epub 2014 Sep 23 doi: 10.1007/s40368-014-0141-0. PMID: 25245233
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

Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.
Parekh B, Duncan JL, Samarakoon L, Melia M, Abalem MF, Andrews CA, Audo I, Ayala AR, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Huckfeldt RM, Lacy GD, Malbin B, Michaelides M, Musch DC, Peck-Dimit N, Stingl K, Weng CY, Zmejkoski AZ, Jayasundera KT; Foundation Fighting Blindness Clinical Consortium Investigator Group
Invest Ophthalmol Vis Sci 2024 Jun 3;65(6):5. doi: 10.1167/iovs.65.6.5. PMID: 38833260Free 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
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
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
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS
Mov Disord 2012 Jul;27(8):1034-40. Epub 2012 Jun 26 doi: 10.1002/mds.25033. PMID: 22736418

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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      Clinical tests in GTR
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