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Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

Abstract Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the combination of TMPRSS3 mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milder TMPRSS3 mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations in TMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs⁎12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12). We concluded that different combinations of TMPRSS3 mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family.
PMID
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Authors

Mayor MeshTerms

Genes, Recessive

Genetic Predisposition to Disease

Keywords
Journal Title biomed research international
Publication Year Start




PMID- 28246597
OWN - NLM
STAT- MEDLINE
DA  - 20170301
DCOM- 20170313
LR  - 20170313
IS  - 2314-6141 (Electronic)
VI  - 2017
DP  - 2017
TI  - Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in 
      One Chinese Family with Autosomal Recessive Hearing Impairment.
PG  - 4707315
LID - 10.1155/2017/4707315 [doi]
AB  - Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions
      are caused by mutations in the TMPRSS3 gene, which can lead to prelingual
      (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be
      classified as mild or severe, and the phenotype is dependent on the combination
      of TMPRSS3 mutations. The combination of two severe mutations leads to profound
      hearing impairment with a prelingual onset, whereas severe mutations in
      combination with milder TMPRSS3 mutations lead to a milder phenotype with
      postlingual onset. We characterized a Chinese family (number FH1523) with not
      only prelingual but also postlingual hearing impairment. Three mutations in
      TMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs12)], and two previously
      reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys),
      were identified. Compound heterozygous mutations of p.(Phe13Serfs12) and
      p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient
      (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as
      postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5),
      suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs12).
      We concluded that different combinations of TMPRSS3 mutations led to different
      hearing impairment phenotypes (DFNB8/DFNB10) in this family.
FAU - Gao, Xue
AU  - Gao X
AUID- ORCID: 0000-0003-4305-1206
AD  - Department of Otolaryngology, The General Hospital of the PLA Rocket Force, No.
      16 Xinwai Dajie, Beijing 100088, China.
FAU - Yuan, Yong-Yi
AU  - Yuan YY
AUID- ORCID: 0000-0002-7936-4776
AD  - Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28
      Fuxing Road, Beijing 100853, China.
FAU - Wang, Guo-Jian
AU  - Wang GJ
AD  - Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28
      Fuxing Road, Beijing 100853, China.
FAU - Xu, Jin-Cao
AU  - Xu JC
AD  - Department of Otolaryngology, The General Hospital of the PLA Rocket Force, No.
      16 Xinwai Dajie, Beijing 100088, China.
FAU - Su, Yu
AU  - Su Y
AD  - Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28
      Fuxing Road, Beijing 100853, China.
FAU - Lin, Xi
AU  - Lin X
AUID- ORCID: 0000-0002-1345-8374
AD  - Department of Otolaryngology, Emory University School of Medicine, 615 Michael
      Street, Whitehead Biomedical Research Bldg, Rm No. 543, Atlanta, GA 30322, USA.
FAU - Dai, Pu
AU  - Dai P
AUID- ORCID: 0000-0003-0718-8889
AD  - Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28
      Fuxing Road, Beijing 100853, China.
LA  - eng
PT  - Journal Article
DEP - 20170129
PL  - United States
TA  - Biomed Res Int
JT  - BioMed research international
JID - 101600173
RN  - 0 (Membrane Proteins)
RN  - 0 (Mutant Proteins)
RN  - 0 (Neoplasm Proteins)
RN  - EC 3.4.21.- (Serine Endopeptidases)
RN  - EC 3.4.21.- (TMPRSS3 protein, human)
SB  - IM
MH  - Aged
MH  - Amino Acid Sequence
MH  - Asian Continental Ancestry Group/*genetics
MH  - Audiometry
MH  - Base Sequence
MH  - Child
MH  - Cochlear Implants
MH  - Conserved Sequence
MH  - DNA Mutational Analysis
MH  - Deafness/genetics
MH  - Family
MH  - Female
MH  - *Genes, Recessive
MH  - *Genetic Predisposition to Disease
MH  - Hearing Loss/*genetics
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - Models, Molecular
MH  - Mutant Proteins/chemistry/genetics
MH  - Mutation/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Serine Endopeptidases/*genetics
PMC - PMC5303592
COI - The authors declare that they have no competing interests.
EDAT- 2017/03/02 06:00
MHDA- 2017/03/14 06:00
CRDT- 2017/03/02 06:00
PHST- 2016/10/12 [received]
PHST- 2016/12/03 [revised]
PHST- 2016/12/20 [accepted]
AID - 10.1155/2017/4707315 [doi]
PST - ppublish
SO  - Biomed Res Int. 2017;2017:4707315. doi: 10.1155/2017/4707315. Epub 2017 Jan 29.

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