U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Show allHide all

Professional guidelines

PubMed

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
Advancing genetic testing for deafness with genomic technology.
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ
J Med Genet 2013 Sep;50(9):627-34. Epub 2013 Jun 26 doi: 10.1136/jmedgenet-2013-101749. PMID: 23804846Free PMC Article
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

MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
Li W, Guo L, Chen B, Shu Y, Li H
Int J Pediatr Otorhinolaryngol 2023 Aug;171:111635. Epub 2023 Jun 12 doi: 10.1016/j.ijporl.2023.111635. PMID: 37390746
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.
Mikkelsen KS, Tranebjærg L, Mey K
Cochlear Implants Int 2019 Mar;20(2):100-103. Epub 2018 Nov 28 doi: 10.1080/14670100.2018.1550849. PMID: 30484383
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
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K, Wu X, Zong L, Jiang H
J Clin Lab Anal 2018 Nov;32(9):e22592. Epub 2018 Jun 21 doi: 10.1002/jcla.22592. PMID: 29926981Free PMC Article
High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients.
Chen D, Chen X, Cao K, Zuo J, Jin X, Wei C, Fang F
ORL J Otorhinolaryngol Relat Spec 2009;71(4):212-5. Epub 2009 Aug 26 doi: 10.1159/000229300. PMID: 19707039

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
Oblique facial clefts in Johanson-Blizzard syndrome.
Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Solis-Hernández E, Guzmán C, Richmond E, Zahl C, Zenker M, Sukalo M
Am J Med Genet A 2016 Jun;170(6):1495-501. Epub 2016 Mar 17 doi: 10.1002/ajmg.a.37630. PMID: 26989884
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

Therapy

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
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
Li X, Cheng Q, Ding Y, Li Q, Yao R, Wang J, Wang X
BMC Pediatr 2019 Jul 11;19(1):233. doi: 10.1186/s12887-019-1608-2. PMID: 31296181Free PMC Article
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.
Mikkelsen KS, Tranebjærg L, Mey K
Cochlear Implants Int 2019 Mar;20(2):100-103. Epub 2018 Nov 28 doi: 10.1080/14670100.2018.1550849. PMID: 30484383
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

Prognosis

GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K, Wu X, Zong L, Jiang H
J Clin Lab Anal 2018 Nov;32(9):e22592. Epub 2018 Jun 21 doi: 10.1002/jcla.22592. PMID: 29926981Free 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
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

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
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K, Wu X, Zong L, Jiang H
J Clin Lab Anal 2018 Nov;32(9):e22592. Epub 2018 Jun 21 doi: 10.1002/jcla.22592. PMID: 29926981Free 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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...