Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Standard
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. / Li, Yun; Pohl, Esther; Boulouiz, Redouane; Schraders, Margit; Nürnberg, Gudrun; Charif, Majida; Admiraal, Ronald J C; von Ameln, Simon; Baessmann, Ingelore; Kandil, Mostafa; Veltman, Joris A; Nürnberg, Peter; Kubisch, Christian; Barakat, Abdelhamid; Kremer, Hannie; Wollnik, Bernd.
In: AM J HUM GENET, Vol. 86, No. 3, 3, 2010, p. 479-484.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
AU - Li, Yun
AU - Pohl, Esther
AU - Boulouiz, Redouane
AU - Schraders, Margit
AU - Nürnberg, Gudrun
AU - Charif, Majida
AU - Admiraal, Ronald J C
AU - von Ameln, Simon
AU - Baessmann, Ingelore
AU - Kandil, Mostafa
AU - Veltman, Joris A
AU - Nürnberg, Peter
AU - Kubisch, Christian
AU - Barakat, Abdelhamid
AU - Kremer, Hannie
AU - Wollnik, Bernd
PY - 2010
Y1 - 2010
N2 - We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79 locus on chromosome 9q34. By sequencing of 62 positional candidate genes of the critical region, we identified a causative homozygous 11 bp deletion, c.42_52del, in the TPRN gene in all seven affected individuals. The deletion is located in exon 1 and results in a frameshift and premature protein truncation (p.Gly15AlafsX150). Interestingly, the deleted sequence is part of a repetitive and CG-rich motive predicted to be prone to structural aberrations during crossover formation. We identified another family with progressive ARNSHL linked to this locus, whose affected members were shown to carry a causative 1 bp deletion (c.1347delG) in exon 1 of TPRN. The function of the encoded protein, taperin, is unknown; yet, partial homology to the actin-caping protein phostensin suggests a role in actin dynamics.
AB - We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79 locus on chromosome 9q34. By sequencing of 62 positional candidate genes of the critical region, we identified a causative homozygous 11 bp deletion, c.42_52del, in the TPRN gene in all seven affected individuals. The deletion is located in exon 1 and results in a frameshift and premature protein truncation (p.Gly15AlafsX150). Interestingly, the deleted sequence is part of a repetitive and CG-rich motive predicted to be prone to structural aberrations during crossover formation. We identified another family with progressive ARNSHL linked to this locus, whose affected members were shown to carry a causative 1 bp deletion (c.1347delG) in exon 1 of TPRN. The function of the encoded protein, taperin, is unknown; yet, partial homology to the actin-caping protein phostensin suggests a role in actin dynamics.
KW - Animals
KW - Humans
KW - Male
KW - Female
KW - Mice
KW - Amino Acid Sequence
KW - Base Sequence
KW - Gene Expression
KW - Genes, Recessive
KW - Homozygote
KW - Pedigree
KW - Sequence Deletion
KW - Consanguinity
KW - Chromosome Mapping
KW - DNA Primers/genetics
KW - Exons
KW - Mutation
KW - Chromosomes, Human, Pair 9/genetics
KW - DNA/genetics
KW - Cochlea/metabolism
KW - Frameshift Mutation
KW - Hearing Loss/congenital/genetics
KW - Morocco
KW - Proteins/genetics
KW - Animals
KW - Humans
KW - Male
KW - Female
KW - Mice
KW - Amino Acid Sequence
KW - Base Sequence
KW - Gene Expression
KW - Genes, Recessive
KW - Homozygote
KW - Pedigree
KW - Sequence Deletion
KW - Consanguinity
KW - Chromosome Mapping
KW - DNA Primers/genetics
KW - Exons
KW - Mutation
KW - Chromosomes, Human, Pair 9/genetics
KW - DNA/genetics
KW - Cochlea/metabolism
KW - Frameshift Mutation
KW - Hearing Loss/congenital/genetics
KW - Morocco
KW - Proteins/genetics
M3 - SCORING: Journal article
VL - 86
SP - 479
EP - 484
JO - AM J HUM GENET
JF - AM J HUM GENET
SN - 0002-9297
IS - 3
M1 - 3
ER -