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Hearing loss, autosomal recessive 100(DFNB100)

MedGen UID:
1682525
•Concept ID:
C5193087
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 100
 
Gene (location): PPIP5K2 (5q21.1)
 
Monarch Initiative: MONDO:0032740
OMIM®: 618422

Definition

DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement (Yousaf et al., 2018). [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
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature
Abnormal fundus morphology
MedGen UID:
871316
•Concept ID:
C4025804
•
Anatomical Abnormality
Any structural abnormality of the fundus of the eye.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.
Gao B, Jiang Y, Han M, Ji X, Zhang D, Wu L, Gao X, Huang S, Zhao C, Su Y, Yang S, Zhang X, Liu N, Han L, Wang L, Ren L, Yang J, Wu J, Yuan Y, Dai P
J Mol Diagn 2024 Jul;26(7):638-651. Epub 2024 Apr 23 doi: 10.1016/j.jmoldx.2024.04.002. PMID: 38663495
The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Xiang J, Peng J, Sun X, Lin Z, Li D, Ye H, Wang S, Bai Y, Wang X, Du P, Gao Y, Sun J, Pan S, Peng Z
Clin Chem 2023 Jul 5;69(7):763-770. doi: 10.1093/clinchem/hvad046. PMID: 37207672
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.
Zhang Y, Wang F, Ding J, Zhang H, Zhao D, Yu L, Xiao H, Yao Y, Zhong X, Wang S
Am J Med Genet A 2012 Sep;158A(9):2188-93. Epub 2012 Aug 6 doi: 10.1002/ajmg.a.35528. PMID: 22887978

Recent clinical studies

Etiology

Spectrum of Alport syndrome in an Indian cohort.
Yadav M, Jadon T, Singh G, Devi KG, Chandan M, Khandelwal P, Meena J, Geetha TS, Faruq M, Hari P, Sinha A, Bagga A
Pediatr Nephrol 2025 Feb;40(2):393-405. Epub 2024 Sep 16 doi: 10.1007/s00467-024-06507-1. PMID: 39278986
A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss.
Mu Q, Bai L, Xu B, Du H, Jiang Z, Huang S, Gao B, Wu Q, Zhao H, Dai P, Jiang Y
Prenat Diagn 2024 Aug;44(9):1043-1052. Epub 2024 Mar 15 doi: 10.1002/pd.6550. PMID: 38488843
Cochlear and Vestibular Volumes in Inner Ear Malformations.
Breitsprecher TM, Pscheidl A, Bächinger D, Volkenstein S, Dhanasingh A, Van Rompaey V, Mlynski R, Dazert S, Van de Heyning P, Langner S, Roland P, Weiss NM
Otol Neurotol 2022 Sep 1;43(8):e814-e819. doi: 10.1097/MAO.0000000000003615. PMID: 35970155
Longitudinal hearing loss in Wolfram syndrome.
Karzon R, Narayanan A, Chen L, Lieu JEC, Hershey T
Orphanet J Rare Dis 2018 Jun 27;13(1):102. doi: 10.1186/s13023-018-0852-0. PMID: 29945639Free PMC Article
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
Mohebbi N, Wagner CA
J Nephrol 2018 Aug;31(4):511-522. Epub 2017 Oct 9 doi: 10.1007/s40620-017-0447-1. PMID: 28994037

Diagnosis

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S
HGG Adv 2023 Apr 13;4(2):100181. Epub 2023 Jan 18 doi: 10.1016/j.xhgg.2023.100181. PMID: 36785559Free PMC Article
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G
Hum Mutat 2016 Aug;37(8):812-9. Epub 2016 May 6 doi: 10.1002/humu.22999. PMID: 27068579
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article
Autosomal dominant microtia.
Chafai Elalaoui S, Cherkaoui Jaouad I, Rifai L, Sefiani A
Eur J Med Genet 2010 Mar-Apr;53(2):100-3. Epub 2010 Feb 10 doi: 10.1016/j.ejmg.2010.02.002. PMID: 20152949
Brown-Vialetto-Van Laere syndrome.
Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855Free PMC Article

Therapy

Thiamine-responsive megaloblastic anaemia in a young adult with acute pancytopenia.
Pascoe MA, Hall AM, Gray A
BMJ Case Rep 2024 Oct 1;17(10) doi: 10.1136/bcr-2024-261435. PMID: 39353666
Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant.
Riaz I, Rashid A, Majeed A
J Pak Med Assoc 2024 Mar;74(3):476-479. doi: 10.47391/JPMA.8708. PMID: 38591281
Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.
Khurshid A, Fatimah S, Altaf C, Malik HS, Sajjad Z, Khadim MT
J Coll Physicians Surg Pak 2018 Sep;28(9):S169-S171. doi: 10.29271/jcpsp.2018.09.S169. PMID: 30173687
Longitudinal hearing loss in Wolfram syndrome.
Karzon R, Narayanan A, Chen L, Lieu JEC, Hershey T
Orphanet J Rare Dis 2018 Jun 27;13(1):102. doi: 10.1186/s13023-018-0852-0. PMID: 29945639Free PMC Article
A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.
Gonçalves AC, Chora J, Matos TD, Santos R, O'Neill A, Escada P, Fialho G, Caria H
Int J Pediatr Otorhinolaryngol 2013 Jan;77(1):89-91. Epub 2012 Nov 8 doi: 10.1016/j.ijporl.2012.10.002. PMID: 23141775

Prognosis

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
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
Temporal Bone Histopathology in Cockayne Syndrome.
Handzel O, Nadol JB Jr
Otol Neurotol 2018 Jun;39(5):e387-e391. doi: 10.1097/MAO.0000000000001801. PMID: 29649050Free PMC Article
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
Mohebbi N, Wagner CA
J Nephrol 2018 Aug;31(4):511-522. Epub 2017 Oct 9 doi: 10.1007/s40620-017-0447-1. PMID: 28994037
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article
Brown-Vialetto-Van Laere syndrome.
Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855Free PMC Article

Clinical prediction guides

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
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
Evolutionary origin of pathogenic GJB2 alleles in China.
Jiang Y, Huang S, Zhang Y, Fang N, Liu Q, Liu Y, Bai L, Han D, Dai P
Clin Genet 2022 Oct;102(4):305-313. Epub 2022 Jul 24 doi: 10.1111/cge.14191. PMID: 35841299
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM
J Hum Genet 2020 Jan;65(2):187-192. Epub 2019 Oct 28 doi: 10.1038/s10038-019-0691-4. PMID: 31656313Free PMC Article
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM
Eur J Hum Genet 2019 Sep;27(9):1456-1465. Epub 2019 May 3 doi: 10.1038/s41431-019-0417-2. PMID: 31053783Free PMC Article
Temporal Bone Histopathology in Cockayne Syndrome.
Handzel O, Nadol JB Jr
Otol Neurotol 2018 Jun;39(5):e387-e391. doi: 10.1097/MAO.0000000000001801. PMID: 29649050Free PMC Article

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      OMIM records containing genes associated with phenotypes registered in MedGen
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