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Hearing loss, autosomal recessive 123(DFNB123)

MedGen UID:
1861332
•Concept ID:
C5935588
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 123
 
Gene (location): STX4 (16p11.2)
 
Monarch Initiative: MONDO:0958277
OMIM®: 620745

Definition

Autosomal recessive deafness-123 (DFNB123) is characterized by nonsyndromic bilateral severe to profound hearing impairment, with onset as early as the first decade of life (Schrauwen et al., 2023). [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
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Macrocephaly
MedGen UID:
745757
•Concept ID:
C2243051
•
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM
Genes (Basel) 2022 Aug 10;13(8) doi: 10.3390/genes13081423. PMID: 36011334Free PMC Article
Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.
Simi A, Perry J, Schindler E, Oza A, Luo M, Hartman T, Krantz ID, Germiller JA, Kawai K, Kenna M
Laryngoscope 2021 Dec;131(12):E2897-E2903. Epub 2021 Jun 10 doi: 10.1002/lary.29680. PMID: 34111299
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, Blanchet C, Delettre C, Esmenjaud E, Roubertie A, Lenaers G, Hamel CP
Ophthalmology 2016 Sep;123(9):1989-98. Epub 2016 Jul 7 doi: 10.1016/j.ophtha.2016.05.036. PMID: 27395765
Significance of unilateral enlarged vestibular aqueduct.
Greinwald J, DeAlarcon A, Cohen A, Uwiera T, Zhang K, Benton C, Halstead M, Meinzen-Derr J
Laryngoscope 2013 Jun;123(6):1537-46. Epub 2013 Feb 9 doi: 10.1002/lary.23889. PMID: 23401162
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C
Ophthalmic Genet 2000 Jun;21(2):123-8. PMID: 10916187

Diagnosis

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM
Genes (Basel) 2022 Aug 10;13(8) doi: 10.3390/genes13081423. PMID: 36011334Free PMC Article
Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation.
Saeed HS, Rajai A, Nash R, Saeed SR, Stivaros SM, Black G, Bruce IA
Otol Neurotol 2022 Jun 1;43(5):e563-e570. Epub 2022 Mar 8 doi: 10.1097/MAO.0000000000003518. PMID: 35261386
Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.
Simi A, Perry J, Schindler E, Oza A, Luo M, Hartman T, Krantz ID, Germiller JA, Kawai K, Kenna M
Laryngoscope 2021 Dec;131(12):E2897-E2903. Epub 2021 Jun 10 doi: 10.1002/lary.29680. PMID: 34111299
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, Blanchet C, Delettre C, Esmenjaud E, Roubertie A, Lenaers G, Hamel CP
Ophthalmology 2016 Sep;123(9):1989-98. Epub 2016 Jul 7 doi: 10.1016/j.ophtha.2016.05.036. PMID: 27395765
Significance of unilateral enlarged vestibular aqueduct.
Greinwald J, DeAlarcon A, Cohen A, Uwiera T, Zhang K, Benton C, Halstead M, Meinzen-Derr J
Laryngoscope 2013 Jun;123(6):1537-46. Epub 2013 Feb 9 doi: 10.1002/lary.23889. PMID: 23401162

Prognosis

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM
Genes (Basel) 2022 Aug 10;13(8) doi: 10.3390/genes13081423. PMID: 36011334Free PMC Article
Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation.
Saeed HS, Rajai A, Nash R, Saeed SR, Stivaros SM, Black G, Bruce IA
Otol Neurotol 2022 Jun 1;43(5):e563-e570. Epub 2022 Mar 8 doi: 10.1097/MAO.0000000000003518. PMID: 35261386
Significance of unilateral enlarged vestibular aqueduct.
Greinwald J, DeAlarcon A, Cohen A, Uwiera T, Zhang K, Benton C, Halstead M, Meinzen-Derr J
Laryngoscope 2013 Jun;123(6):1537-46. Epub 2013 Feb 9 doi: 10.1002/lary.23889. PMID: 23401162

Clinical prediction guides

First reported CABP2-related non-syndromic hearing loss in Northern Europe.
Sheyanth IN, Højland AT, Okkels H, Lolas I, Thorup C, Petersen MB
Mol Genet Genomic Med 2021 Apr;9(4):e1639. Epub 2021 Mar 5 doi: 10.1002/mgg3.1639. PMID: 33666369Free PMC Article
Significance of unilateral enlarged vestibular aqueduct.
Greinwald J, DeAlarcon A, Cohen A, Uwiera T, Zhang K, Benton C, Halstead M, Meinzen-Derr J
Laryngoscope 2013 Jun;123(6):1537-46. Epub 2013 Feb 9 doi: 10.1002/lary.23889. PMID: 23401162
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings.
Koul R, Jain R, Chacko A, Alfutaisi A, Hashim J, Chacko J
J Child Neurol 2006 Jun;21(6):523-5. doi: 10.1177/08830738060210060501. PMID: 16948939
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.
Tlili A, Männikkö M, Charfedine I, Lahmar I, Benzina Z, Ben Amor M, Driss N, Ala-Kokko L, Drira M, Masmoudi S, Ayadi H
Hum Hered 2005;60(3):123-8. Epub 2005 Oct 18 doi: 10.1159/000088974. PMID: 16244493

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    Related information

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    • Gene
      Related information in NCBI Gene
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
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