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Autosomal recessive nonsyndromic hearing loss 104(DFNB104)

MedGen UID:
899775
Concept ID:
C4225298
Disease or Syndrome
Synonym: Deafness, autosomal recessive 104
 
Gene (location): RIPOR2 (6p22.3)
 
Monarch Initiative: MONDO:0014675
OMIM®: 616515

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene. [from MONDO]

Clinical features

From HPO
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Prelingual sensorineural hearing impairment
MedGen UID:
867432
Concept ID:
C4021806
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
Positive Romberg sign
MedGen UID:
66017
Concept ID:
C0240914
Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Absent brainstem auditory responses
MedGen UID:
322983
Concept ID:
C1836742
Finding
Lack of measurable response to stimulation of auditory evoked potentials.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Recent clinical studies

Etiology

He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516

Diagnosis

He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516

Prognosis

He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G
J Transl Med 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. PMID: 25388789Free PMC Article

Clinical prediction guides

He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G
J Transl Med 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. PMID: 25388789Free PMC Article
Cengiz FB, Duman D, Sirmaci A, Tokgöz-Yilmaz S, Erbek S, Oztürkmen-Akay H, Incesulu A, Edwards YJ, Ozdag H, Liu XZ, Tekin M
Genet Test Mol Biomarkers 2010 Aug;14(4):543-50. doi: 10.1089/gtmb.2010.0039. PMID: 20642360

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