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Hearing loss, autosomal dominant 71(DFNA71)

MedGen UID:
1621646
•Concept ID:
C4539881
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 71
 
Gene (location): DMXL2 (15q21.2)
 
Monarch Initiative: MONDO:0033258
OMIM®: 617605

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

Professional guidelines

PubMed

A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.
Kitajiri S, Makishima T, Friedman TB, Griffith AJ
Clin Genet 2007 Feb;71(2):148-52. doi: 10.1111/j.1399-0004.2007.00739.x. PMID: 17250663
Genotype-phenotype correlations in type 1 Waardenburg syndrome.
Lalwani AK, Mhatre AN, San Agustin TB, Wilcox ER
Laryngoscope 1996 Jul;106(7):895-902. doi: 10.1097/00005537-199607000-00021. PMID: 8667990

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
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
Yasukawa R, Moteki H, Nishio SY, Ishikawa K, Abe S, Honkura Y, Hyogo M, Mihashi R, Ikezono T, Shintani T, Ogasawara N, Shirai K, Yoshihashi H, Ishino T, Otsuki K, Ito T, Sugahara K, Usami SI
Genes (Basel) 2019 Sep 24;10(10) doi: 10.3390/genes10100744. PMID: 31554319Free PMC Article
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X
Clin Genet 2019 Oct;96(4):290-299. Epub 2019 Jul 10 doi: 10.1111/cge.13588. PMID: 31219622
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S
Kidney Int 2017 May;91(5):1243-1255. Epub 2017 Feb 21 doi: 10.1016/j.kint.2016.12.017. PMID: 28233610
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A
J Med Genet 2016 Feb;53(2):98-110. Epub 2015 Oct 26 doi: 10.1136/jmedgenet-2015-103302. PMID: 26502894Free PMC Article

Diagnosis

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY, Kim BJ, Oh DY, Han JH, Yi N, Kim NJ, Park MK, Keum C, Seo GH, Choi BY
Sci Rep 2022 Jul 21;12(1):12457. doi: 10.1038/s41598-022-16661-x. PMID: 35864128Free PMC Article
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X
Clin Genet 2019 Oct;96(4):290-299. Epub 2019 Jul 10 doi: 10.1111/cge.13588. PMID: 31219622
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S
Kidney Int 2017 May;91(5):1243-1255. Epub 2017 Feb 21 doi: 10.1016/j.kint.2016.12.017. PMID: 28233610
Muenke syndrome: An international multicenter natural history study.
Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M
Am J Med Genet A 2016 Apr;170A(4):918-29. Epub 2016 Jan 6 doi: 10.1002/ajmg.a.37528. PMID: 26740388
Genetics of hearing and deafness.
Angeli S, Lin X, Liu XZ
Anat Rec (Hoboken) 2012 Nov;295(11):1812-29. Epub 2012 Oct 8 doi: 10.1002/ar.22579. PMID: 23044516Free PMC Article

Prognosis

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.
Hasegawa Y, Segawa T, Chida A, Yoshida E, Kinno H, Chiba H, Oda T, Takahashi Y, Nata K, Ishigaki Y
Endocr J 2024 Nov 1;71(11):1077-1086. Epub 2024 Aug 27 doi: 10.1507/endocrj.EJ24-0147. PMID: 39198190
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.
Requena T, Gallego-Martinez A, Lopez-Escamez JA
Hum Genomics 2017 May 22;11(1):11. doi: 10.1186/s40246-017-0107-5. PMID: 28532469Free PMC Article
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A
Metabolism 2017 Jun;71:213-225. Epub 2017 Mar 28 doi: 10.1016/j.metabol.2017.03.011. PMID: 28521875
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
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Am J Hum Genet 2002 Sep;71(3):618-24. Epub 2002 Jun 27 doi: 10.1086/342067. PMID: 12089654Free PMC Article

Clinical prediction guides

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.
Hasegawa Y, Segawa T, Chida A, Yoshida E, Kinno H, Chiba H, Oda T, Takahashi Y, Nata K, Ishigaki Y
Endocr J 2024 Nov 1;71(11):1077-1086. Epub 2024 Aug 27 doi: 10.1507/endocrj.EJ24-0147. PMID: 39198190
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
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
Yasukawa R, Moteki H, Nishio SY, Ishikawa K, Abe S, Honkura Y, Hyogo M, Mihashi R, Ikezono T, Shintani T, Ogasawara N, Shirai K, Yoshihashi H, Ishino T, Otsuki K, Ito T, Sugahara K, Usami SI
Genes (Basel) 2019 Sep 24;10(10) doi: 10.3390/genes10100744. PMID: 31554319Free PMC Article
OPA1 analysis in an international series of probands with bilateral optic atrophy.
Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M
Acta Ophthalmol 2017 Jun;95(4):363-369. Epub 2016 Nov 17 doi: 10.1111/aos.13285. PMID: 27860320
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

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      OMIM records containing genes associated with phenotypes registered in MedGen
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