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NM_000307.5(POU3F4):c.877C>G (p.Leu293Val) AND X-linked mixed hearing loss with perilymphatic gusher

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 4, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000474747.1

Allele description

NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)

Gene:
POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)
HGVS:
  • NC_000023.11:g.83509201C>G
  • NG_009936.2:g.5941C>G
  • NM_000307.5:c.877C>GMANE SELECT
  • NP_000298.3:p.Leu293Val
  • NC_000023.10:g.82764209C>G
  • NM_000307.4:c.877C>G
Protein change:
L293V
Links:
dbSNP: rs780027419
NCBI 1000 Genomes Browser:
rs780027419
Molecular consequence:
  • NM_000307.5:c.877C>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
variation affecting protein structure [Variation Ontology: 0060]
Observations:
1

Condition(s)

Name:
X-linked mixed hearing loss with perilymphatic gusher
Synonyms:
Deafness, X-linked 2; Deafness conductive with stapes fixation; Deafness 3 conductive with stapes fixation; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010576; MedGen: C1844678; Orphanet: 383; OMIM: 304400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000538186Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University
no assertion criteria provided
Pathogenic
(Mar 4, 2017) 		unknown, not applicableclinical testing, research

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedresearch
Hanunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University, SCV000538186.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
2Han1not providednot providedclinical testingnot provided

Description

Sequence screening of all the family members showed hemizygous missense mutation (c.877C>G) in POU3F4 gene in both the proband and his mother’s brother . Heterozygous missense mutation (c.877C>G) in POU3F4 gene was found in proband’s mother. No mutations of POU3F4 gene was found in proband’s father and in controls.

Description

The proband and his mother's brother were profound hearing loss since birth , and his mother and father were normal hearing. Then the proband and his mother's brother obtained MRI of inner ear which showed partial cochlear hypoplasia. The genetic analysis showed that the proband and his mother's brother were hemizygous mutation and his mother was carrier of this mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided
2unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 16, 2023