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Hearing loss, autosomal dominant 72(DFNA72)

MedGen UID:
1614203
•Concept ID:
C4539886
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 72
 
Gene (location): SLC44A4 (6p21.33)
 
Monarch Initiative: MONDO:0033259
OMIM®: 617606

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
Tinnitus
MedGen UID:
52760
•Concept ID:
C0040264
•
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Accelerated Cognitive Decline Associated With Hearing Loss and Bilateral Vestibulopathy: Insights From a Prospective Cross-Sectional Study Using the Repeatable Battery for the Assessment of Neuropsychological Status Adjusted for the Hearing Impaired in the DFNA9 Population.
Gommeren H, Bosmans J, Moyaert J, Mertens G, Cras P, Engelborghs S, Van Ombergen A, Gilles A, Fransen E, van de Berg R, JanssensdeVarebeke S, Van Rompaey V
Ear Hear 2023 Jul-Aug 01;44(4):697-709. Epub 2022 Dec 20 doi: 10.1097/AUD.0000000000001315. PMID: 36607747Free PMC Article
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K
Clin J Am Soc Nephrol 2016 Aug 8;11(8):1441-1449. Epub 2016 Jun 8 doi: 10.2215/CJN.01000116. PMID: 27281700Free PMC Article
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ
Am J Hum Genet 2014 Oct 2;95(4):445-53. Epub 2014 Sep 25 doi: 10.1016/j.ajhg.2014.09.001. PMID: 25262649Free PMC Article
Temporal bone imaging in osteogenesis imperfecta patients with hearing loss.
Swinnen FK, Casselman JW, De Leenheer EM, Cremers CW, Dhooge IJ
Laryngoscope 2013 Aug;123(8):1988-95. Epub 2013 Feb 12 doi: 10.1002/lary.23963. PMID: 23404366
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.
Garretsen TJ, Cremers CW
Ann N Y Acad Sci 1991;630:240-8. doi: 10.1111/j.1749-6632.1991.tb19594.x. PMID: 1952595

Diagnosis

Accelerated Cognitive Decline Associated With Hearing Loss and Bilateral Vestibulopathy: Insights From a Prospective Cross-Sectional Study Using the Repeatable Battery for the Assessment of Neuropsychological Status Adjusted for the Hearing Impaired in the DFNA9 Population.
Gommeren H, Bosmans J, Moyaert J, Mertens G, Cras P, Engelborghs S, Van Ombergen A, Gilles A, Fransen E, van de Berg R, JanssensdeVarebeke S, Van Rompaey V
Ear Hear 2023 Jul-Aug 01;44(4):697-709. Epub 2022 Dec 20 doi: 10.1097/AUD.0000000000001315. PMID: 36607747Free PMC Article
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K
Clin J Am Soc Nephrol 2016 Aug 8;11(8):1441-1449. Epub 2016 Jun 8 doi: 10.2215/CJN.01000116. PMID: 27281700Free PMC Article
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
Sohn YB, Ko JM, Shin CH, Yang SW, Chae JH, Lee KA
J Hum Genet 2016 Mar;61(3):235-9. Epub 2015 Nov 5 doi: 10.1038/jhg.2015.135. PMID: 26538304
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF, Scacheri C, White L, Scacheri PC, Bale S
Genet Test Mol Biomarkers 2010 Dec;14(6):881-91. doi: 10.1089/gtmb.2010.0101. PMID: 21158681Free PMC Article
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970

Therapy

Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.
Garretsen TJ, Cremers CW
Ann N Y Acad Sci 1991;630:240-8. doi: 10.1111/j.1749-6632.1991.tb19594.x. PMID: 1952595

Prognosis

Pearls & Oy-sters: Familial Verbal Auditory Agnosia Due to C9orf72 Repeat Expansion.
Kim YS, Kim YE, Choung YH, Kim H, Kim HJ, Jung NY, Lee SM, Kim EJ, Moon SY
Neurology 2023 Nov 14;101(20):e2046-e2050. Epub 2023 Aug 30 doi: 10.1212/WNL.0000000000207832. PMID: 37648532Free PMC Article
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
Cheng J, Han DY, Dai P, Sun HJ, Tao R, Sun Q, Yan D, Qin W, Wang HY, Ouyang XM, Yang SZ, Cao JY, Feng GY, Du LL, Zhang YZ, Zhai SQ, Yang WY, Liu XZ, He L, Yuan HJ
Clin Genet 2007 Nov;72(5):471-7. Epub 2007 Sep 14 doi: 10.1111/j.1399-0004.2007.00889.x. PMID: 17868390
Diagnostic issues in a family with late onset type 2 neurofibromatosis.
Evans DG, Bourn D, Wallace A, Ramsden RT, Mitchell JD, Strachan T
J Med Genet 1995 Jun;32(6):470-4. doi: 10.1136/jmg.32.6.470. PMID: 7666400Free PMC Article

Clinical prediction guides

Pearls & Oy-sters: Familial Verbal Auditory Agnosia Due to C9orf72 Repeat Expansion.
Kim YS, Kim YE, Choung YH, Kim H, Kim HJ, Jung NY, Lee SM, Kim EJ, Moon SY
Neurology 2023 Nov 14;101(20):e2046-e2050. Epub 2023 Aug 30 doi: 10.1212/WNL.0000000000207832. PMID: 37648532Free PMC Article
Accelerated Cognitive Decline Associated With Hearing Loss and Bilateral Vestibulopathy: Insights From a Prospective Cross-Sectional Study Using the Repeatable Battery for the Assessment of Neuropsychological Status Adjusted for the Hearing Impaired in the DFNA9 Population.
Gommeren H, Bosmans J, Moyaert J, Mertens G, Cras P, Engelborghs S, Van Ombergen A, Gilles A, Fransen E, van de Berg R, JanssensdeVarebeke S, Van Rompaey V
Ear Hear 2023 Jul-Aug 01;44(4):697-709. Epub 2022 Dec 20 doi: 10.1097/AUD.0000000000001315. PMID: 36607747Free PMC Article
Temporal bone imaging in osteogenesis imperfecta patients with hearing loss.
Swinnen FK, Casselman JW, De Leenheer EM, Cremers CW, Dhooge IJ
Laryngoscope 2013 Aug;123(8):1988-95. Epub 2013 Feb 12 doi: 10.1002/lary.23963. PMID: 23404366
A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3.
Chatterjee A, Jalvi R, Pandey N, Rangasayee R, Anand A
Hum Genet 2009 Jan;124(6):669-75. Epub 2008 Nov 22 doi: 10.1007/s00439-008-0596-3. PMID: 19030898
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.
Garretsen TJ, Cremers CW
Ann N Y Acad Sci 1991;630:240-8. doi: 10.1111/j.1749-6632.1991.tb19594.x. PMID: 1952595

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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