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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 impairment
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.
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.
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.

Recent clinical studies

Etiology

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
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
Zakzouk S
J Laryngol Otol 2002 Oct;116(10):811-6. doi: 10.1258/00222150260293628. PMID: 12437836
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

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
Sabet SJ, Carey AR
Ophthalmic Genet 2022 Feb;43(1):116-119. Epub 2021 Aug 23 doi: 10.1080/13816810.2021.1970195. PMID: 34425740
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
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
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

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
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
Zakzouk S
J Laryngol Otol 2002 Oct;116(10):811-6. doi: 10.1258/00222150260293628. PMID: 12437836

Prognosis

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
Zakzouk S
J Laryngol Otol 2002 Oct;116(10):811-6. doi: 10.1258/00222150260293628. PMID: 12437836

Clinical prediction guides

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
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
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
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
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

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