PMID- 34291353
OWN - NLM
STAT- MEDLINE
DCOM- 20220426
LR  - 20230814
IS  - 1432-1203 (Electronic)
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 141
IP  - 3-4
DP  - 2022 Apr
TI  - Identification of autosomal recessive nonsyndromic hearing impairment genes 
      through the study of consanguineous and non-consanguineous families: past, 
      present, and future.
PG  - 413-430
LID - 10.1007/s00439-021-02309-9 [doi]
AB  - Hearing impairment (HI) is one of the most common sensory disabilities with 
      exceptionally high genetic heterogeneity. Of genetic HI cases, 30% are syndromic 
      and 70% are nonsyndromic. For nonsyndromic (NS) HI, 77% of the cases are due to 
      autosomal recessive (AR) inheritance. ARNSHI is usually congenital/prelingual, 
      severe-to-profound, affects all frequencies and is not progressive. Thus far, 73 
      ARNSHI genes have been identified. Populations with high rates of consanguinity 
      have been crucial in the identification of ARNSHI genes, and 92% (67/73) of these 
      genes were identified in consanguineous families. Recent changes in genomic 
      technologies and analyses have allowed a shift towards ARNSHI gene discovery in 
      outbred populations. The latter is crucial towards understanding the genetic 
      architecture of ARNSHI in diverse and understudied populations. We present an 
      overview of the 73 ARNSHI genes, the methods used to identify them, including 
      next-generation sequencing which revolutionized the field, and new technologies 
      that show great promise in advancing ARNSHI discoveries.
CI  - (c) 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, 
      part of Springer Nature.
FAU - Acharya, Anushree
AU  - Acharya A
AD  - Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia 
      University Medical Center, New York, NY, USA.
AD  - Department of Neurology, Columbia University Medical Center, New York, NY, USA.
FAU - Schrauwen, Isabelle
AU  - Schrauwen I
AD  - Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia 
      University Medical Center, New York, NY, USA.
AD  - Department of Neurology, Columbia University Medical Center, New York, NY, USA.
FAU - Leal, Suzanne M
AU  - Leal SM
AUID- ORCID: 0000-0003-1231-8174
AD  - Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia 
      University Medical Center, New York, NY, USA. sml3@columbia.edu.
AD  - Department of Neurology, Columbia University Medical Center, New York, NY, USA. 
      sml3@columbia.edu.
AD  - Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University 
      Medical Center, New York, NY, USA. sml3@columbia.edu.
LA  - eng
GR  - R01 DC003594/DC/NIDCD NIH HHS/United States
GR  - R01 DC01165/DC/NIDCD NIH HHS/United States
GR  - R01 DC016593/DC/NIDCD NIH HHS/United States
GR  - R29 DC003594/DC/NIDCD NIH HHS/United States
GR  - R01 DC011651/DC/NIDCD NIH HHS/United States
PT  - Journal Article
PT  - Review
DEP - 20210722
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - Nonsyndromic Deafness
SB  - IM
MH  - Consanguinity
MH  - *Deafness/genetics
MH  - Genes, Recessive
MH  - *Hearing Loss/genetics
MH  - Humans
MH  - Pedigree
PMC - PMC10416318
MID - NIHMS1896158
COIS- Conflicts of Interest The authors declare no conflict of interest.
EDAT- 2021/07/23 06:00
MHDA- 2022/04/27 06:00
PMCR- 2023/08/11
CRDT- 2021/07/22 06:45
PHST- 2021/05/31 00:00 [received]
PHST- 2021/06/24 00:00 [accepted]
PHST- 2021/07/23 06:00 [pubmed]
PHST- 2022/04/27 06:00 [medline]
PHST- 2021/07/22 06:45 [entrez]
PHST- 2023/08/11 00:00 [pmc-release]
AID - 10.1007/s00439-021-02309-9 [pii]
AID - 10.1007/s00439-021-02309-9 [doi]
PST - ppublish
SO  - Hum Genet. 2022 Apr;141(3-4):413-430. doi: 10.1007/s00439-021-02309-9. Epub 2021 
      Jul 22.