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Hearing loss, autosomal recessive 109(DFNB109)

MedGen UID:: 1633308
•Concept ID:: C4693935
•: Disease or Syndrome

Synonym:	Deafness, autosomal recessive 109

Gene (location): Gene(s) directly associated with this condition or phenotype.	ESRP1 (8q22.1)

Monarch Initiative:	MONDO:0033202
OMIM®:	618013

Definition

DFNB109 is characterized by bilateral congenital severe to profound sensorineural hearing loss. In addition, affected individuals exhibit vestibular dysplasia on CT scan, although they do not manifest problems with balance or movement (Rohacek et al., 2017). [from OMIM]

Clinical features

From HPO

Congenital sensorineural hearing impairment

MedGen UID:: 356101
•Concept ID:: C1865866
•: Disease or Syndrome

A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.

See: Feature record | Search on this feature

Abnormal semicircular canal morphology

MedGen UID:: 868972
•Concept ID:: C4023386
•: Anatomical Abnormality

An abnormality of the morphology of the semicircular canal.

See: Feature record | Search on this feature

Absent vestibular function

MedGen UID:: 870219
•Concept ID:: C4024656
•: Finding

Complete lack of functioning of the vestibular apparatus.

See: Feature record | Search on this feature

Ear malformation

Recent clinical studies

Etiology

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.

Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G
Am J Hum Genet 2008 Apr;82(4):982-91. doi: 10.1016/j.ajhg.2008.02.015. PMID: 18394579 Free PMC Article

Hearing impairment in association with distal renal tubular acidosis among Saudi children.

Zakzouk SM, Sobki SH, Mansour F, al Anazy FH
J Laryngol Otol 1995 Oct;109(10):930-4. doi: 10.1017/s0022215100131706. PMID: 7499943

See all (2)

Diagnosis

Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss.

Mahfood M, Kamal Eddine Ahmad Mohamed W, Al Mutery A, Tlili A
Genet Test Mol Biomarkers 2019 Mar;23(3):204-208. Epub 2019 Feb 13 doi: 10.1089/gtmb.2018.0264. PMID: 30758234

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.

Lukashkin AN, Legan PK, Weddell TD, Lukashkina VA, Goodyear RJ, Welstead LJ, Petit C, Russell IJ, Richardson GP
Proc Natl Acad Sci U S A 2012 Nov 20;109(47):19351-6. Epub 2012 Nov 5 doi: 10.1073/pnas.1210159109. PMID: 23129639 Free PMC Article

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.

Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G
Am J Hum Genet 2008 Apr;82(4):982-91. doi: 10.1016/j.ajhg.2008.02.015. PMID: 18394579 Free PMC Article

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Müller-Forell W, Kopp P, Pohlenz J
J Clin Endocrinol Metab 2006 Jul;91(7):2678-81. Epub 2006 May 9 doi: 10.1210/jc.2006-0142. PMID: 16684826

Hearing impairment in association with distal renal tubular acidosis among Saudi children.

Zakzouk SM, Sobki SH, Mansour F, al Anazy FH
J Laryngol Otol 1995 Oct;109(10):930-4. doi: 10.1017/s0022215100131706. PMID: 7499943

See all (5)

Prognosis

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

Bassot C, Minervini G, Leonardi E, Tosatto SC
Biochimie 2017 Jan;132:109-120. Epub 2016 Oct 19 doi: 10.1016/j.biochi.2016.10.002. PMID: 27771369

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.

Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G
Am J Hum Genet 2008 Apr;82(4):982-91. doi: 10.1016/j.ajhg.2008.02.015. PMID: 18394579 Free PMC Article

Hearing impairment in association with distal renal tubular acidosis among Saudi children.

Zakzouk SM, Sobki SH, Mansour F, al Anazy FH
J Laryngol Otol 1995 Oct;109(10):930-4. doi: 10.1017/s0022215100131706. PMID: 7499943

See all (3)

Clinical prediction guides

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

Bassot C, Minervini G, Leonardi E, Tosatto SC
Biochimie 2017 Jan;132:109-120. Epub 2016 Oct 19 doi: 10.1016/j.biochi.2016.10.002. PMID: 27771369

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.

Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G
Am J Hum Genet 2008 Apr;82(4):982-91. doi: 10.1016/j.ajhg.2008.02.015. PMID: 18394579 Free PMC Article

George M. Cober Lecturer: Mark T. Keating. Molecular basis of the long-QT syndrome associated with deafness.

Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT
Proc Assoc Am Physicians 1997 Sep;109(5):504-11. PMID: 9285950

See all (3)

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Hearing loss, autosomal recessive 109(DFNB109)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

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