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Hearing loss, autosomal dominant 78(DFNA78)

MedGen UID:
1777362
•Concept ID:
C5436768
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 78
 
Gene (location): SLC12A2 (5q23.3)
 
Monarch Initiative: MONDO:0033665
OMIM®: 619081

Definition

Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by Mutai et al., 2020). [from OMIM]

Clinical features

From HPO
Profound sensorineural hearing impairment
MedGen UID:
868926
•Concept ID:
C4023338
•
Disease or Syndrome
Complete loss of hearing related to a sensorineural defect.
See: Feature record | Search on this feature
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.
Mei Y, Zhang H, Zhang Z
Front Endocrinol (Lausanne) 2022;13:935905. Epub 2022 Jul 14 doi: 10.3389/fendo.2022.935905. PMID: 35909573Free PMC Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Specific Targeting of Oncogenes Using CRISPR Technology.
Oppel F, Schürmann M, Goon P, Albers AE, Sudhoff H
Cancer Res 2018 Oct 1;78(19):5506-5512. Epub 2018 Sep 7 doi: 10.1158/0008-5472.CAN-18-0571. PMID: 30194069
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802
Neurofibromatosis 2: hearing restoration options.
Monteiro TA, Goffi-Gomez MV, Tsuji RK, Gomes MQ, Brito Neto RV, Bento RF
Braz J Otorhinolaryngol 2012 Oct;78(5):128-34. doi: 10.5935/1808-8694.20120020. PMID: 23108832Free PMC Article

Diagnosis

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article
Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients.
Bénichou OD, Laredo JD, de Vernejoul MC
Bone 2000 Jan;26(1):87-93. doi: 10.1016/s8756-3282(99)00244-6. PMID: 10617161
Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients.
Pedersen U
Scand Audiol 1984;13(2):67-74. doi: 10.3109/01050398409043042. PMID: 6463554

Therapy

Sebastian platelet syndrome: a hereditary macrothrombocytopenia.
Rodriguez V, Nichols WL, Charlesworth JE, White JG
Mayo Clin Proc 2003 Nov;78(11):1416-21. doi: 10.4065/78.11.1416. PMID: 14601703

Prognosis

Specific Targeting of Oncogenes Using CRISPR Technology.
Oppel F, Schürmann M, Goon P, Albers AE, Sudhoff H
Cancer Res 2018 Oct 1;78(19):5506-5512. Epub 2018 Sep 7 doi: 10.1158/0008-5472.CAN-18-0571. PMID: 30194069
COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):427-32. Epub 2013 Dec 18 doi: 10.1016/j.ijporl.2013.12.008. PMID: 24398087
Neurofibromatosis 2: hearing restoration options.
Monteiro TA, Goffi-Gomez MV, Tsuji RK, Gomes MQ, Brito Neto RV, Bento RF
Braz J Otorhinolaryngol 2012 Oct;78(5):128-34. doi: 10.5935/1808-8694.20120020. PMID: 23108832Free PMC Article
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
Zenaty D, Bretones P, Lambe C, Guemas I, David M, Léger J, de Roux N
Mol Cell Endocrinol 2006 Jul 25;254-255:78-83. Epub 2006 Jun 6 doi: 10.1016/j.mce.2006.04.006. PMID: 16757108
Osteopathia striata with cranial sclerosis and hearing loss.
Lüerssen K, Ptok M
Eur Arch Otorhinolaryngol 2006 Feb;263(2):123-6. Epub 2005 Jul 12 doi: 10.1007/s00405-005-0972-8. PMID: 16010569

Clinical prediction guides

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.
Mei Y, Zhang H, Zhang Z
Front Endocrinol (Lausanne) 2022;13:935905. Epub 2022 Jul 14 doi: 10.3389/fendo.2022.935905. PMID: 35909573Free PMC Article
Alteration of Bone Density, Microarchitecture, and Strength in Patients with Camurati-Engelmann Disease: Assessed by HR-pQCT.
Li Q, Zhao Z, Wu B, Pang Q, Cui L, Zhang L, Jiang Y, Wang O, Li M, Xing X, Hu Y, Yu W, Meng X, Jiajue R, Xia W
J Bone Miner Res 2022 Jan;37(1):78-86. Epub 2021 Sep 28 doi: 10.1002/jbmr.4436. PMID: 34490910
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):427-32. Epub 2013 Dec 18 doi: 10.1016/j.ijporl.2013.12.008. PMID: 24398087
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article

Recent systematic reviews

May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802

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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