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Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
- Source :
- BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019), BMC Medical Genetics
- Publication Year :
- 2019
- Publisher :
- Springer Science and Business Media LLC, 2019.
-
Abstract
- Background Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of LOXHD1 was associated with NSHL in a Chinese family under consanguineous marriage. Case presentation A 28-year-old woman suffered a bilateral profound NSHL. Impedance audiometry, temporal bone computerized tomography (TBCT) scans and magnetic resonance imaging-inner ear hydrography (MRI-IEH) did not find any obvious abnormality of middle or inner ear. Routine genetic detection did not find pathogenic variants in common HL-associated genes. Therefore, we performed a whole-exome sequencing (WES) in this family. By trio-WES, co-segregation validation and bioinformatics analysis, we revealed that a novel homozygous variant in this patient, LOXHD1: c.5948C > T (p.S1983F), might be the pathogenic factor. Her parents (heterozygotes) and brother (wild-type) were asymptomatic. Conclusions We successfully identified a novel variant of LOXHD1 associated with a rare NSHL from a Chinese family. Our finds highlight the effectiveness of trio-WES for molecular diagnosis of rare NHSL, and expand the genotypic spectrum of DFNB77. Electronic supplementary material The online version of this article (10.1186/s12881-019-0758-2) contains supplementary material, which is available to authorized users.
- Subjects :
- Adult
Male
0301 basic medicine
lcsh:Internal medicine
medicine.medical_specialty
lcsh:QH426-470
Hearing loss
Hearing Loss, Sensorineural
Non-syndromic hearing loss (NSHL)
Mutation, Missense
Lipoxygenase homology domains 1 (LOXHD1)
Case Report
030105 genetics & heredity
Biology
Deafness, autosomal recessive 77 (DFNB77)
Polymorphism, Single Nucleotide
Consanguinity
03 medical and health sciences
Asian People
Exome Sequencing
Genotype
Genetics
medicine
Humans
Missense mutation
lcsh:RC31-1245
Genetic variant
Genetics (clinical)
Exome sequencing
Cytogenetics
Whole-exome sequencing (WES)
Human genetics
Pedigree
lcsh:Genetics
030104 developmental biology
Female
Abnormality
medicine.symptom
Carrier Proteins
Consanguineous Marriage
Subjects
Details
- ISSN :
- 14712350
- Volume :
- 20
- Database :
- OpenAIRE
- Journal :
- BMC Medical Genetics
- Accession number :
- edsair.doi.dedup.....545194fe93ac2dbe75f16fe018bf7f11