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Hearing loss, autosomal recessive 116(DFNB116)

MedGen UID:
1726617
•Concept ID:
C5436789
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 116
 
Gene (location): CLDN9 (16p13.3)
 
Monarch Initiative: MONDO:0033670
OMIM®: 619093

Definition

Autosomal recessive deafness-116 (DFNB116) is characterized by slowly progressive moderate to profound sensorineural hearing loss (SNHL), with a steeply sloping audiogram in the high frequencies in younger patients (Sineni et al., 2019). [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
Positive Romberg sign
MedGen UID:
66017
•Concept ID:
C0240914
•
Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali R, Al-Dewik N, Mohammed S, Elfituri M, Agouba S, Musa S, Mahmoud L, Almulla M, El-Akouri K, Mohd H, Bux R, Almulla H, Othman A, Al-Mesaifri F, Shahbeck N, Al-Muriekhi M, Khalifa A, Al-Sulaiman R, Ben-Omran T
Am J Med Genet A 2022 Jan;188(1):116-129. Epub 2021 Sep 30 doi: 10.1002/ajmg.a.62501. PMID: 34590781
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.
Zmyslowska A, Malkowski B, Fendler W, Borowiec M, Antosik K, Gnys P, Baranska D, Mlynarski W
PLoS One 2014;9(12):e115605. Epub 2014 Dec 26 doi: 10.1371/journal.pone.0115605. PMID: 25542043Free PMC Article
Consanguinity and hearing impairment in developing countries: a custom to be discouraged.
Zakzouk S
J Laryngol Otol 2002 Oct;116(10):811-6. doi: 10.1258/00222150260293628. PMID: 12437836
Dips on Békésy or audioscan fail to identify carriers of autosomal recessive non-syndromic hearing loss.
Cohen M, Francis M, Luxon LM, Bellman S, Coffey R, Pembrey M
Acta Otolaryngol 1996 Jul;116(4):521-7. doi: 10.3109/00016489609137883. PMID: 8831836

Diagnosis

Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali R, Al-Dewik N, Mohammed S, Elfituri M, Agouba S, Musa S, Mahmoud L, Almulla M, El-Akouri K, Mohd H, Bux R, Almulla H, Othman A, Al-Mesaifri F, Shahbeck N, Al-Muriekhi M, Khalifa A, Al-Sulaiman R, Ben-Omran T
Am J Med Genet A 2022 Jan;188(1):116-129. Epub 2021 Sep 30 doi: 10.1002/ajmg.a.62501. PMID: 34590781
Wolfram syndrome with vitelliform retinal deposits.
Sabet SJ, Carey AR
Ophthalmic Genet 2022 Feb;43(1):116-119. Epub 2021 Aug 23 doi: 10.1080/13816810.2021.1970195. PMID: 34425740
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.
Zmyslowska A, Malkowski B, Fendler W, Borowiec M, Antosik K, Gnys P, Baranska D, Mlynarski W
PLoS One 2014;9(12):e115605. Epub 2014 Dec 26 doi: 10.1371/journal.pone.0115605. PMID: 25542043Free PMC Article
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article
Dips on Békésy or audioscan fail to identify carriers of autosomal recessive non-syndromic hearing loss.
Cohen M, Francis M, Luxon LM, Bellman S, Coffey R, Pembrey M
Acta Otolaryngol 1996 Jul;116(4):521-7. doi: 10.3109/00016489609137883. PMID: 8831836

Therapy

Intraoperative seizure and cerebrospinal fluid leak during adult cochlear implant surgery.
Musser AB, Golub JS, Samy RN, Phero JC
Cochlear Implants Int 2016;17(2):116-9. Epub 2016 Feb 5 doi: 10.1080/14670100.2015.1112571. PMID: 26843205
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.
Maarup TJ, Chen AH, Porter FD, Farhat NY, Ory DS, Sidhu R, Jiang X, Dickson PI
Mol Genet Metab 2015 Sep-Oct;116(1-2):75-9. Epub 2015 Jul 15 doi: 10.1016/j.ymgme.2015.07.001. PMID: 26189084Free PMC Article
Consanguinity and hearing impairment in developing countries: a custom to be discouraged.
Zakzouk S
J Laryngol Otol 2002 Oct;116(10):811-6. doi: 10.1258/00222150260293628. PMID: 12437836

Prognosis

Intraoperative seizure and cerebrospinal fluid leak during adult cochlear implant surgery.
Musser AB, Golub JS, Samy RN, Phero JC
Cochlear Implants Int 2016;17(2):116-9. Epub 2016 Feb 5 doi: 10.1080/14670100.2015.1112571. PMID: 26843205
Consanguinity and hearing impairment in developing countries: a custom to be discouraged.
Zakzouk S
J Laryngol Otol 2002 Oct;116(10):811-6. doi: 10.1258/00222150260293628. PMID: 12437836

Clinical prediction guides

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
Hofrichter MAH, Mojarad M, Doll J, Grimm C, Eslahi A, Hosseini NS, Rajati M, Müller T, Dittrich M, Maroofian R, Haaf T, Vona B
BMC Med Genet 2018 May 18;19(1):81. doi: 10.1186/s12881-018-0598-5. PMID: 29776397Free PMC Article
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.
Saba TG, Montpetit A, Verner A, Rioux P, Hudson TJ, Drouin R, Drouin CA
Hum Genet 2005 Feb;116(3):167-71. Epub 2004 Nov 25 doi: 10.1007/s00439-004-1193-8. PMID: 15668823
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S
Hum Genet 2005 Jan;116(1-2):17-22. Epub 2004 Nov 6 doi: 10.1007/s00439-004-1205-8. PMID: 15538632
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O
Am J Hum Genet 2001 Jul;69(1):228-34. Epub 2001 Jun 8 doi: 10.1086/321269. PMID: 11402400Free PMC Article
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

Supplemental Content

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    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

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