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Autosomal recessive nonsyndromic hearing loss 23(DFNB23)

MedGen UID:
332110
Concept ID:
C1836027
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 23; DFNB23 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): PCDH15 (10q21.1)
 
Monarch Initiative: MONDO:0012293
OMIM®: 609533

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene. [from MONDO]

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.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024

Recent clinical studies

Etiology

Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Noori-Daloii MR, Tabatabaiefar MA
Audiol Neurootol 2020;25(5):258-262. Epub 2020 Jun 2 doi: 10.1159/000506500. PMID: 32485727
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024
Bouwer S, Angelicheva D, Chandler D, Seeman P, Tournev I, Kalaydjieva L
Genet Test 2007 Winter;11(4):455-8. doi: 10.1089/gte.2007.0048. PMID: 18294064

Diagnosis

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
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M
Eur J Hum Genet 2015 Feb;23(2):189-94. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.83. PMID: 24781754Free PMC Article
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024
Hilgert N, Smith RJH, Van Camp G
Mutat Res 2009 Mar-Jun;681(2-3):189-196. Epub 2008 Aug 29 doi: 10.1016/j.mrrev.2008.08.002. PMID: 18804553Free PMC Article
Bouwer S, Angelicheva D, Chandler D, Seeman P, Tournev I, Kalaydjieva L
Genet Test 2007 Winter;11(4):455-8. doi: 10.1089/gte.2007.0048. PMID: 18294064

Prognosis

Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, Sathappan A, Sheehan P, Panhuys NV, The Qatar Genome Program Research Consortium, Estivill X
Int J Mol Sci 2022 Mar 21;23(6) doi: 10.3390/ijms23063369. PMID: 35328790Free PMC Article
Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F
Genes (Basel) 2020 Dec 9;11(12) doi: 10.3390/genes11121474. PMID: 33316915Free PMC Article
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
Ann Lab Med 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. PMID: 31858762Free PMC Article
Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY
J Gene Med 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. PMID: 27886419Free PMC Article
Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G
J Transl Med 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. PMID: 25388789Free PMC Article

Clinical prediction guides

Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, Sathappan A, Sheehan P, Panhuys NV, The Qatar Genome Program Research Consortium, Estivill X
Int J Mol Sci 2022 Mar 21;23(6) doi: 10.3390/ijms23063369. PMID: 35328790Free PMC Article
Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F
Genes (Basel) 2020 Dec 9;11(12) doi: 10.3390/genes11121474. PMID: 33316915Free PMC Article
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
Ann Lab Med 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. PMID: 31858762Free PMC Article
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M
Eur J Hum Genet 2015 Feb;23(2):189-94. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.83. PMID: 24781754Free PMC Article
Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G
J Transl Med 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. PMID: 25388789Free PMC Article

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