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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.

Professional guidelines

PubMed

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

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
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
Reisser CF, Kimberling WJ, Otterstedde CR
Ann Otol Rhinol Laryngol 2002 Dec;111(12 Pt 1):1108-11. doi: 10.1177/000348940211101208. PMID: 12498372
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
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

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
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
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
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
Swift RG, Polymeropoulos MH, Torres R, Swift M
Mol Psychiatry 1998 Jan;3(1):86-91. doi: 10.1038/sj.mp.4000344. PMID: 9491819

Therapy

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

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
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
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
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

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
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
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
Chen N, Pan X, Ren H, Dong D
Chin Med J (Engl) 1998 Sep;111(9):797-802. PMID: 11155669
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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