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Auditory neuropathy-optic atrophy syndrome(ANOA)

MedGen UID:
1623572
•Concept ID:
C4521678
•
Disease or Syndrome
Synonym: AUDITORY NEUROPATHY AND OPTIC ATROPHY
SNOMED CT: Auditory neuropathy, optic atrophy syndrome (1222649004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): FDXR (17q25.1)
 
Monarch Initiative: MONDO:0060582
OMIM®: 617717
Orphanet: ORPHA542585

Definition

ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by Paul et al., 2017). [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.
See: Feature record | Search on this feature
Nystagmus
MedGen UID:
45166
•Concept ID:
C0028738
•
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
See: Feature record | Search on this feature
Optic atrophy
MedGen UID:
18180
•Concept ID:
C0029124
•
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
See: Feature record | Search on this feature
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
See: Feature record | Search on this feature
Rod-cone dystrophy
MedGen UID:
1632921
•Concept ID:
C4551714
•
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAuditory neuropathy-optic atrophy syndrome

Recent clinical studies

Etiology

Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.
Chaudhry D, Chaudhry A, Muzaffar J, Monksfield P, Bance M
J Int Adv Otol 2020 Dec;16(3):411-431. doi: 10.5152/iao.2020.9035. PMID: 33136025Free PMC Article
Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.
Li L, Fong CY, Tay CG, Tae SK, Suzuki H, Kosaki K, Thong MK
J Clin Neurosci 2020 Jan;71:289-292. Epub 2019 Sep 4 doi: 10.1016/j.jocn.2019.08.111. PMID: 31493991
Natural history and clinical characteristics of 50 patients with Wolfram syndrome.
Bueno GE, Ruiz-Castañeda D, Martínez JR, Muñoz MR, Alascio PC
Endocrine 2018 Sep;61(3):440-446. Epub 2018 May 4 doi: 10.1007/s12020-018-1608-2. PMID: 29728875
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M
Hum Genet 2018 Feb;137(2):111-127. Epub 2018 Jan 5 doi: 10.1007/s00439-017-1862-z. PMID: 29305691
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.
Sofer S, Schweiger A, Blumkin L, Yahalom G, Anikster Y, Lev D, Ben-Zeev B, Lerman-Sagie T, Hassin-Baer S
Am J Med Genet B Neuropsychiatr Genet 2015 Apr;168B(3):197-203. Epub 2015 Feb 5 doi: 10.1002/ajmg.b.32296. PMID: 25657044

Diagnosis

Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M, Nishio SY, Moteki H, Takumi Y, Miyagawa M, Sato T, Kobayashi Y, Ohyama K, Oda K, Matsui T, Ito T, Suzumura H, Nagai K, Izumi S, Nishiyama N, Komori M, Kumakawa K, Takeda H, Kishimoto Y, Iwasaki S, Furutate S, Ishikawa K, Fujioka M, Nakanishi H, Nakayama J, Horie R, Ohta Y, Naito Y, Kakudo M, Sakaguchi H, Kataoka Y, Sugahara K, Hato N, Nakagawa T, Tsuchihashi N, Kanda Y, Kihara C, Tono T, Miyanohara I, Ganaha A, Usami SI
Sci Rep 2019 Aug 19;9(1):11976. doi: 10.1038/s41598-019-47141-4. PMID: 31427586Free PMC Article
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q
BMC Med Genet 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3. PMID: 30634948Free PMC Article
Natural history and clinical characteristics of 50 patients with Wolfram syndrome.
Bueno GE, Ruiz-Castañeda D, Martínez JR, Muñoz MR, Alascio PC
Endocrine 2018 Sep;61(3):440-446. Epub 2018 May 4 doi: 10.1007/s12020-018-1608-2. PMID: 29728875
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
Han KH, Oh DY, Lee S, Lee C, Han JH, Kim MY, Park HR, Park MK, Kim NKD, Lee J, Yi E, Kim JM, Kim JW, Chae JH, Oh SH, Park WY, Choi BY
Sci Rep 2017 Nov 28;7(1):16504. doi: 10.1038/s41598-017-16676-9. PMID: 29184165Free PMC Article
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. PMID: 24727570

Therapy

Functional MRI study in a case of Charles Bonnet syndrome related to LHON.
Vacchiano V, Tonon C, Mitolo M, Evangelisti S, Carbonelli M, Liguori R, Lodi R, Carelli V, La Morgia C
BMC Neurol 2019 Dec 30;19(1):350. doi: 10.1186/s12883-019-1579-9. PMID: 31888524Free PMC Article

Prognosis

Functional MRI study in a case of Charles Bonnet syndrome related to LHON.
Vacchiano V, Tonon C, Mitolo M, Evangelisti S, Carbonelli M, Liguori R, Lodi R, Carelli V, La Morgia C
BMC Neurol 2019 Dec 30;19(1):350. doi: 10.1186/s12883-019-1579-9. PMID: 31888524Free PMC Article
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q
BMC Med Genet 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3. PMID: 30634948Free PMC Article
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.
Sofer S, Schweiger A, Blumkin L, Yahalom G, Anikster Y, Lev D, Ben-Zeev B, Lerman-Sagie T, Hassin-Baer S
Am J Med Genet B Neuropsychiatr Genet 2015 Apr;168B(3):197-203. Epub 2015 Feb 5 doi: 10.1002/ajmg.b.32296. PMID: 25657044
Wolfram syndrome: new mutations, different phenotype.
Aloi C, Salina A, Pasquali L, Lugani F, Perri K, Russo C, Tallone R, Ghiggeri GM, Lorini R, d'Annunzio G
PLoS One 2012;7(1):e29150. Epub 2012 Jan 4 doi: 10.1371/journal.pone.0029150. PMID: 22238590Free PMC Article
Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).
Merchant SN, McKenna MJ, Nadol JB Jr, Kristiansen AG, Tropitzsch A, Lindal S, Tranebjaeizrg L
Otol Neurotol 2001 Jul;22(4):506-11. doi: 10.1097/00129492-200107000-00017. PMID: 11449109

Clinical prediction guides

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q
BMC Med Genet 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3. PMID: 30634948Free PMC Article
Natural history and clinical characteristics of 50 patients with Wolfram syndrome.
Bueno GE, Ruiz-Castañeda D, Martínez JR, Muñoz MR, Alascio PC
Endocrine 2018 Sep;61(3):440-446. Epub 2018 May 4 doi: 10.1007/s12020-018-1608-2. PMID: 29728875
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M
Hum Genet 2018 Feb;137(2):111-127. Epub 2018 Jan 5 doi: 10.1007/s00439-017-1862-z. PMID: 29305691
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. PMID: 24727570
The mitochondrial connection in auditory neuropathy.
Cacace AT, Pinheiro JM
Audiol Neurootol 2011;16(6):398-413. Epub 2011 Jan 22 doi: 10.1159/000323276. PMID: 21266802

Recent systematic reviews

Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.
Chaudhry D, Chaudhry A, Muzaffar J, Monksfield P, Bance M
J Int Adv Otol 2020 Dec;16(3):411-431. doi: 10.5152/iao.2020.9035. PMID: 33136025Free PMC Article

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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