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Hearing loss, autosomal recessive 111(DFNB111)

MedGen UID:
1648423
•Concept ID:
C4748374
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 111
 
Gene (location): MPZL2 (11q23.3)
 
Monarch Initiative: MONDO:0029142
OMIM®: 618145

Definition

DFNB111 is characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement (Wesdorp et al., 2018; Bademci et al., 2018). [from OMIM]

Clinical features

From HPO
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling.
Brownstein Z, Friedlander Y, Peritz E, Cohen T
Am J Med Genet 1991 Dec 1;41(3):306-12. doi: 10.1002/ajmg.1320410309. PMID: 1789284

Recent clinical studies

Etiology

A nationwide study on enlargement of the vestibular aqueduct in Japan.
Noguchi Y, Fukuda S, Fukushima K, Gyo K, Hara A, Nakashima T, Ogawa K, Okamoto M, Sato H, Usami SI, Yamasoba T, Yokoyama T, Kitamura K
Auris Nasus Larynx 2017 Feb;44(1):33-39. Epub 2016 May 6 doi: 10.1016/j.anl.2016.04.012. PMID: 27160786
Evaluation of deaf children in a large series in Turkey.
Ozturk O, Silan F, Oghan F, Egeli E, Belli S, Tokmak A, Egeli A, Harputluoglu U, Onder HI, Zafer C
Int J Pediatr Otorhinolaryngol 2005 Mar;69(3):367-73. Epub 2004 Dec 21 doi: 10.1016/j.ijporl.2004.11.001. PMID: 15733596
Hearing loss in Usher syndrome type II is nonprogressive.
Reisser CF, Kimberling WJ, Otterstedde CR
Ann Otol Rhinol Laryngol 2002 Dec;111(12 Pt 1):1108-11. doi: 10.1177/000348940211101208. PMID: 12498372
Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss.
Berrettini S, Forli F, Franceschini SS, Ravecca F, Massimetti M, Neri E
Ann Otol Rhinol Laryngol 2002 May;111(5 Pt 1):385-91. doi: 10.1177/000348940211100501. PMID: 12018321
Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling.
Brownstein Z, Friedlander Y, Peritz E, Cohen T
Am J Med Genet 1991 Dec 1;41(3):306-12. doi: 10.1002/ajmg.1320410309. PMID: 1789284

Diagnosis

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
Zhang L, Yang JY, Wang QQ, Gao X, Wang GJ, Han MY, Kang DY, Han DY, Huang SS, Yuan YY
BMC Med Genomics 2024 Jan 23;17(1):32. doi: 10.1186/s12920-023-01786-3. PMID: 38254107Free PMC Article
Inner-Ear Disorders Presenting with Air-Bone Gaps: A Review.
Scarpa A, Ralli M, Cassandro C, Gioacchini FM, Greco A, Di Stadio A, Cavaliere M, Troisi D, de Vincentiis M, Cassandro E
J Int Adv Otol 2020 Apr;16(1):111-116. doi: 10.5152/iao.2020.7764. PMID: 32401207Free PMC Article
Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana.
Adadey SM, Tingang Wonkam E, Twumasi Aboagye E, Quansah D, Asante-Poku A, Quaye O, Amedofu GK, Awandare GA, Wonkam A
Genes (Basel) 2020 Jan 27;11(2) doi: 10.3390/genes11020132. PMID: 32012697Free PMC Article
Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.
Paz-y-Miño C, Beaty D, López-Cortés A, Proaño I
Int J Pediatr Otorhinolaryngol 2014 Oct;78(10):1648-54. Epub 2014 Jul 21 doi: 10.1016/j.ijporl.2014.07.014. PMID: 25085072
Hearing loss in Usher syndrome type II is nonprogressive.
Reisser CF, Kimberling WJ, Otterstedde CR
Ann Otol Rhinol Laryngol 2002 Dec;111(12 Pt 1):1108-11. doi: 10.1177/000348940211101208. PMID: 12498372

Therapy

Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
Snoeckx RL, Hassan DM, Kamal NM, Van Den Bogaert K, Van Camp G
Hum Mutat 2005 Jul;26(1):60-1. doi: 10.1002/humu.9350. PMID: 15954104

Prognosis

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
Zhang L, Yang JY, Wang QQ, Gao X, Wang GJ, Han MY, Kang DY, Han DY, Huang SS, Yuan YY
BMC Med Genomics 2024 Jan 23;17(1):32. doi: 10.1186/s12920-023-01786-3. PMID: 38254107Free PMC Article
Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.
Izumi Y, Hamaguchi A, Miura R, Nakagawa T, Nakagawa M, Saida K, Miyake N, Nagayoshi Y, Kakizoe Y, Miyoshi T, Kohda Y, Misumi Y, Matsumoto N, Ando Y, Mukoyama M
CEN Case Rep 2020 Feb;9(1):59-64. Epub 2019 Nov 1 doi: 10.1007/s13730-019-00429-w. PMID: 31677115Free PMC Article
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss.
Berrettini S, Forli F, Franceschini SS, Ravecca F, Massimetti M, Neri E
Ann Otol Rhinol Laryngol 2002 May;111(5 Pt 1):385-91. doi: 10.1177/000348940211100501. PMID: 12018321

Clinical prediction guides

Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.
Izumi Y, Hamaguchi A, Miura R, Nakagawa T, Nakagawa M, Saida K, Miyake N, Nagayoshi Y, Kakizoe Y, Miyoshi T, Kohda Y, Misumi Y, Matsumoto N, Ando Y, Mukoyama M
CEN Case Rep 2020 Feb;9(1):59-64. Epub 2019 Nov 1 doi: 10.1007/s13730-019-00429-w. PMID: 31677115Free PMC Article
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.
Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ
Mol Genet Metab 2014 Apr;111(4):522-532. Epub 2014 Jan 23 doi: 10.1016/j.ymgme.2014.01.008. PMID: 24503136Free PMC Article
A clinicopathological study of Alport syndrome and detection of type IV collagen chains in Alport patients.
Chen N, Pan X, Ren H, Dong D
Chin Med J (Engl) 1998 Sep;111(9):797-802. PMID: 11155669
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.
Keats BJ, Todorov AA, Atwood LD, Pelias MZ, Hejtmancik JF, Kimberling WJ, Leppert M, Lewis RA, Smith RJ
Genomics 1992 Nov;14(3):707-14. doi: 10.1016/s0888-7543(05)80172-7. PMID: 1427898

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    • ClinVar
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      Related information in NCBI Gene
    • GTR
      Related information in GTR
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      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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