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Hearing loss, autosomal recessive 119(DFNB119)

MedGen UID:
1794233
Concept ID:
C5562023
Disease or Syndrome
Synonym: DEAFNESS, AUTOSOMAL RECESSIVE 119
 
Gene (location): AFG2B (15q21.1)
 
Monarch Initiative: MONDO:0030480
OMIM®: 619615

Definition

Autosomal recessive deafness-119 (DFNB119) is characterized by nonsyndromic mild to profound sensorineural hearing loss (Richard et al., 2021). [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.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
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.

Recent clinical studies

Etiology

Alahmadi A, Abdelsamad Y, Salamah M, Alenzi S, Badr KM, Alghamdi S, Alsanosi A
Eur Arch Otorhinolaryngol 2022 Dec;279(12):5497-5509. Epub 2022 Jun 30 doi: 10.1007/s00405-022-07511-7. PMID: 35771280
Koohiyan M, Ahmadi A, Koohian F, Aghaei S, Amiri B, Hashemzadeh-Chaleshtori M
Int J Pediatr Otorhinolaryngol 2019 Apr;119:136-140. Epub 2019 Jan 25 doi: 10.1016/j.ijporl.2019.01.036. PMID: 30708180
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Vanniya S P, Chandru J, Pavithra A, Jeffrey JM, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, C R Srikumari S
Ann Hum Genet 2018 Mar;82(2):119-126. Epub 2017 Nov 17 doi: 10.1111/ahg.12228. PMID: 29148562

Diagnosis

Koohiyan M, Ahmadi A, Koohian F, Aghaei S, Amiri B, Hashemzadeh-Chaleshtori M
Int J Pediatr Otorhinolaryngol 2019 Apr;119:136-140. Epub 2019 Jan 25 doi: 10.1016/j.ijporl.2019.01.036. PMID: 30708180
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Prabhu HV, Brown MJ
J Laryngol Otol 2005 Jun;119(6):470-2. doi: 10.1258/0022215054273179. PMID: 15992475
Colville D, Savige J, Morfis M, Ellis J, Kerr P, Agar J, Fasset R
Ophthalmic Genet 1997 Sep;18(3):119-28. doi: 10.3109/13816819709057125. PMID: 9361309
Brown MT, Cunningham MJ, Ingelfinger JR, Becker AN
Arch Otolaryngol Head Neck Surg 1993 Apr;119(4):458-60. doi: 10.1001/archotol.1993.01880160106017. PMID: 8457310

Therapy

Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N
Ophthalmic Genet 2014 Jun;35(2):119-24. Epub 2013 May 2 doi: 10.3109/13816810.2013.793363. PMID: 23638917

Prognosis

Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N
Ophthalmic Genet 2014 Jun;35(2):119-24. Epub 2013 May 2 doi: 10.3109/13816810.2013.793363. PMID: 23638917
Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H
Laryngoscope 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116. PMID: 19274735Free PMC Article

Clinical prediction guides

Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M
Proc Natl Acad Sci U S A 2022 Jun 28;119(26):e2204084119. Epub 2022 Jun 21 doi: 10.1073/pnas.2204084119. PMID: 35727972Free PMC Article
Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N
Ophthalmic Genet 2014 Jun;35(2):119-24. Epub 2013 May 2 doi: 10.3109/13816810.2013.793363. PMID: 23638917
Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H
Laryngoscope 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116. PMID: 19274735Free PMC Article
Takahashi K, Osawa N, Ohmura M, Kitamura K
Acta Otolaryngol 1999;119(7):767-72. doi: 10.1080/00016489950180405. PMID: 10687933

Recent systematic reviews

Alahmadi A, Abdelsamad Y, Salamah M, Alenzi S, Badr KM, Alghamdi S, Alsanosi A
Eur Arch Otorhinolaryngol 2022 Dec;279(12):5497-5509. Epub 2022 Jun 30 doi: 10.1007/s00405-022-07511-7. PMID: 35771280

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