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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): Gene(s) directly associated with this condition or phenotype.	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

Ear malformation
- Sensorineural hearing loss disorder
- Tinnitus

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: 36607747 Free 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: 27281700 Free 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

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: 21158681 Free PMC Article

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

See all (9)

Diagnosis

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

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

GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.

Zhu ZY, Zhou QL, Ni SN, Gu W
World J Pediatr 2014 Aug;10(3):278-80. Epub 2014 Aug 15 doi: 10.1007/s12519-014-0505-x. PMID: 25124981

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: 21158681 Free PMC Article

See all (9)

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

See all (1)

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: 37648532 Free 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: 7666400 Free PMC Article

See all (4)

Clinical prediction guides

Pearls & Oy-sters: Familial Verbal Auditory Agnosia Due to C9orf72 Repeat Expansion.

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

See all (8)

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Hearing loss, autosomal dominant 72(DFNA72)

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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