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Deafness, Autosomal Recessive 36

MedGen UID:
501251
•Concept ID:
C3496242
•
Disease or Syndrome
Synonym: DFNB36

Definition

An autosomal recessive condition caused by mutation(s) in the ESPN gene, encoding espin. It is characterized by profound sensorineural hearing loss. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness, Autosomal Recessive 36

Recent clinical studies

Etiology

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies.
Klarov LA, Pshennikova VG, Romanov GP, Cherdonova AM, Solovyev AV, Teryutin FM, Luginov NV, Kotlyarov PM, Barashkov NA
Int J Mol Sci 2022 Dec 6;23(23) doi: 10.3390/ijms232315372. PMID: 36499699Free PMC Article
Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population.
Al-Janabi AM, Ahmmed HS, Al-Khafaji SM
J Med Life 2021 Nov-Dec;14(6):841-846. doi: 10.25122/jml-2021-0152. PMID: 35126756Free PMC Article
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article
A nationwide study on enlargement of the vestibular aqueduct in Japan.
Noguchi Y, Fukuda S, Fukushima K, Gyo K, Hara A, Nakashima T, Ogawa K, Okamoto M, Sato H, Usami SI, Yamasoba T, Yokoyama T, Kitamura K
Auris Nasus Larynx 2017 Feb;44(1):33-39. Epub 2016 May 6 doi: 10.1016/j.anl.2016.04.012. PMID: 27160786
GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.
Trabelsi M, Bahri W, Habibi M, Zainine R, Maazoul F, Ghazi B, Chaabouni H, Mrad R
Int J Pediatr Otorhinolaryngol 2013 May;77(5):714-6. Epub 2013 Feb 19 doi: 10.1016/j.ijporl.2013.01.024. PMID: 23434199

Diagnosis

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium
Sci Rep 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1. PMID: 38594301Free PMC Article
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Xiang Y, Xu C, Xu Y, Zhou L, Tang S, Xu X
J Clin Lab Anal 2022 Nov;36(11):e24708. Epub 2022 Sep 26 doi: 10.1002/jcla.24708. PMID: 36164746Free PMC Article
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.
Lin YH, Wu CC, Lin YH, Lu YC, Chen CS, Liu TC, Chen PL, Hsu CJ
J Mol Diagn 2019 Jan;21(1):138-148. Epub 2018 Sep 28 doi: 10.1016/j.jmoldx.2018.08.007. PMID: 30268946

Therapy

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article

Prognosis

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article
Prognostic factors for sudden drops in hearing level after minor head injury in patients with an enlarged vestibular aqueduct: a meta-analysis.
Noordman BJ, van Beeck Calkoen E, Witte B, Goverts T, Hensen E, Merkus P
Otol Neurotol 2015 Jan;36(1):4-11. doi: 10.1097/MAO.0000000000000659. PMID: 25406869

Clinical prediction guides

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article

Recent systematic reviews

Prognostic factors for sudden drops in hearing level after minor head injury in patients with an enlarged vestibular aqueduct: a meta-analysis.
Noordman BJ, van Beeck Calkoen E, Witte B, Goverts T, Hensen E, Merkus P
Otol Neurotol 2015 Jan;36(1):4-11. doi: 10.1097/MAO.0000000000000659. PMID: 25406869

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