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Autosomal recessive nonsyndromic hearing loss 70(DFNB70)

MedGen UID:
760477
Concept ID:
C1824925
Disease or Syndrome
Synonym: Deafness, autosomal recessive 70
 
Gene (location): PNPT1 (2p16.1)
 
Monarch Initiative: MONDO:0013978
OMIM®: 614934

Definition

Autosomal recessive deafness-70 (DFNB70) is a neurologic disorder with a variable disease course. All individuals present with isolated congenital sensorineural hearing loss in infancy that appears to be stable for the first decades of life. Affected members of 1 family with longer follow-up developed a neurodegenerative disease in their forties, including ataxia with loss of ambulation, optic atrophy, dystonia or spasticity, and cognitive decline with psychiatric features. The later onset of additional symptoms in this family suggests that others with DFNB70 may be at risk of developing multisystem disease in mid-to-late adulthood. These reports indicate that there is a phenotypic spectrum of PNPT1-related disease manifestations (Von Ameln et al., 2012; Eaton et al., 2018). [from OMIM]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.

Professional guidelines

PubMed

Camunas-Soler J, Lee H, Hudgins L, Hintz SR, Blumenfeld YJ, El-Sayed YY, Quake SR
Clin Chem 2018 Feb;64(2):336-345. Epub 2017 Nov 2 doi: 10.1373/clinchem.2017.278101. PMID: 29097507

Recent clinical studies

Etiology

Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291
Camunas-Soler J, Lee H, Hudgins L, Hintz SR, Blumenfeld YJ, El-Sayed YY, Quake SR
Clin Chem 2018 Feb;64(2):336-345. Epub 2017 Nov 2 doi: 10.1373/clinchem.2017.278101. PMID: 29097507
Alford RL
Adv Otorhinolaryngol 2011;70:37-42. Epub 2011 Feb 24 doi: 10.1159/000322867. PMID: 21358183
Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O
Genet Test 2007 Winter;11(4):347-52. doi: 10.1089/gte.2006.0526. PMID: 18294049
Thomas MA, Der Kaloustian VM, Tewfik TL
J Otolaryngol 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189. PMID: 15841999

Diagnosis

Zhang L, Zhu Q, Wu Y, Shi P
Cell Mol Biol (Noisy-le-grand) 2024 Jul 28;70(7):134-142. doi: 10.14715/cmb/2024.70.7.19. PMID: 39097884
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291
Camunas-Soler J, Lee H, Hudgins L, Hintz SR, Blumenfeld YJ, El-Sayed YY, Quake SR
Clin Chem 2018 Feb;64(2):336-345. Epub 2017 Nov 2 doi: 10.1373/clinchem.2017.278101. PMID: 29097507
Alford RL
Adv Otorhinolaryngol 2011;70:37-42. Epub 2011 Feb 24 doi: 10.1159/000322867. PMID: 21358183
Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O
Genet Test 2007 Winter;11(4):347-52. doi: 10.1089/gte.2006.0526. PMID: 18294049

Prognosis

Zhang L, Zhu Q, Wu Y, Shi P
Cell Mol Biol (Noisy-le-grand) 2024 Jul 28;70(7):134-142. doi: 10.14715/cmb/2024.70.7.19. PMID: 39097884
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
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. PMID: 24729539Free PMC Article
Thomas MA, Der Kaloustian VM, Tewfik TL
J Otolaryngol 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189. PMID: 15841999

Clinical prediction guides

Zhang L, Zhu Q, Wu Y, Shi P
Cell Mol Biol (Noisy-le-grand) 2024 Jul 28;70(7):134-142. doi: 10.14715/cmb/2024.70.7.19. PMID: 39097884
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
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291
Lebeko K, Bosch J, Noubiap JJ, Dandara C, Wonkam A
Pan Afr Med J 2015;20:383. Epub 2015 Apr 17 doi: 10.11604/pamj.2015.20.383.5230. PMID: 26185573Free PMC Article
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. PMID: 24729539Free PMC Article

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