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Hearing loss, autosomal dominant 74(DFNA74)

MedGen UID:
1648467
•Concept ID:
C4748334
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 74
 
Gene (location): PDE1C (7p14.3)
 
Monarch Initiative: MONDO:0029137
OMIM®: 618140

Definition

Autosomal dominant deafness-74 (DFNA74) is characterized by nonsyndromic postlingual progressive hearing loss, with onset in the third decade of life in most affected individuals (Wang et al., 2018). [from OMIM]

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
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms.
Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C
Neuromuscul Disord 2020 Apr;30(4):315-328. Epub 2020 Mar 12 doi: 10.1016/j.nmd.2020.03.001. PMID: 32327287
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.
Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T
Laryngoscope 2017 Sep;127(9):E324-E329. Epub 2017 Mar 8 doi: 10.1002/lary.26528. PMID: 28271504
The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181
A genetic aetiological survey of severe childhood deafness in the United Arab Emirates.
Al-Gazali LI
J Trop Pediatr 1998 Jun;44(3):157-60. doi: 10.1093/tropej/44.3.157. PMID: 9680781

Diagnosis

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S
Int J Pediatr Otorhinolaryngol 2010 Dec;74(12):1441-4. Epub 2010 Oct 12 doi: 10.1016/j.ijporl.2010.09.006. PMID: 20943277
Otolaryngological manifestations of 'Muckle-Wells syndrome'.
Biswas D, Stafford N
Int J Pediatr Otorhinolaryngol 2010 May;74(5):553-5. Epub 2010 Mar 17 doi: 10.1016/j.ijporl.2010.02.023. PMID: 20299111
Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.
Kunishima S, Matsushita T, Shiratsuchi M, Ikuta T, Nishimura J, Hamaguchi M, Naoe T, Saito H
Eur J Haematol 2005 Jan;74(1):1-5. doi: 10.1111/j.1600-0609.2004.00328.x. PMID: 15613099
The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181
The auditory, vestibular, and oculomotor system in facioscapulohumeral dystrophy.
Verhagen WI, Huygen PL, Padberg GW
Acta Otolaryngol Suppl 1995;520 Pt 1:140-2. doi: 10.3109/00016489509125212. PMID: 8749103

Therapy

Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832

Prognosis

Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms.
Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C
Neuromuscul Disord 2020 Apr;30(4):315-328. Epub 2020 Mar 12 doi: 10.1016/j.nmd.2020.03.001. PMID: 32327287
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochem Biophys 2015 Apr;71(3):1623-42. doi: 10.1007/s12013-014-0385-7. PMID: 25388846
The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181
The deafness, pre-auricular sinus, external ear anomaly and commissural lip pits syndrome--otological, vestibular and radiological findings.
Marres HA, Cremers CW, Huygen PL, Joosten FB
J Laryngol Otol 1994 Jan;108(1):13-8. doi: 10.1017/s002221510012571x. PMID: 8133157

Clinical prediction guides

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Walsh S, Gösswein SS, Rump A, von der Hagen M, Hackmann K, Schröck E, Di Donato N, Kahlert AK
Eur J Med Genet 2020 Oct;63(10):104019. Epub 2020 Jul 23 doi: 10.1016/j.ejmg.2020.104019. PMID: 32712214
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochem Biophys 2015 Apr;71(3):1623-42. doi: 10.1007/s12013-014-0385-7. PMID: 25388846
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y
J Hum Genet 2014 Sep;59(9):521-8. Epub 2014 Jul 31 doi: 10.1038/jhg.2014.65. PMID: 25078356
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.
Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW
Otol Neurotol 2005 Sep;26(5):926-33. doi: 10.1097/01.mao.0000185062.12458.87. PMID: 16151339

Supplemental Content

Table of contents

    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
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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