De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
Identifieur interne : 008011 ( Ncbi/Checkpoint ); précédent : 008010; suivant : 008012De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
Auteurs : Samuel P. Strom [États-Unis] ; Michael J. Clark [États-Unis] ; Ariadna Martinez [États-Unis] ; Sarah Garcia [États-Unis] ; Amira A. Abelazeem [Égypte] ; Anna Matynia [États-Unis] ; Sachin Parikh [États-Unis] ; Lori S. Sullivan [États-Unis] ; Sara J. Bowne [États-Unis] ; Stephen P. Daiger [États-Unis] ; Michael B. Gorin [États-Unis]Source :
- PLoS ONE [ 1932-6203 ] ; 2016.
Abstract
Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencing analysis was used to search for potentially causal DNA variants in a two-generation pedigree with apparent dominant retinitis pigmentosa.
Variant identification and analysis of three affected members (mother and two affected offspring) was performed via exome sequencing. Parental samples of the index case were used to establish inheritance. Follow-up testing of 94 additional retinitis pigmentosa pedigrees was performed via retrospective analysis or Sanger sequencing.
A total of 136 high quality coding variants in 123 genes were identified which are consistent with autosomal dominant disease. Of these, one of the strongest genetic and functional candidates is a c.269A>G (p.Tyr90Cys) variant in
Url:
DOI: 10.1371/journal.pone.0150944
PubMed: 26964041
PubMed Central: 4786330
Affiliations:
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Occurrence of a Variant in <italic>ARL3</italic>
and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>De Novo</italic>
Occurrence of a Variant in <italic>ARL3</italic>
and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa</title>
<author><name sortKey="Strom, Samuel P" sort="Strom, Samuel P" uniqKey="Strom S" first="Samuel P." last="Strom">Samuel P. Strom</name>
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<placeName><region type="state">Californie</region>
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<author><name sortKey="Clark, Michael J" sort="Clark, Michael J" uniqKey="Clark M" first="Michael J." last="Clark">Michael J. Clark</name>
<affiliation wicri:level="2"><nlm:aff id="aff002"><addr-line>Personalis Inc., Menlo Park, California, United States of America</addr-line>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Personalis Inc., Menlo Park, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
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<author><name sortKey="Martinez, Ariadna" sort="Martinez, Ariadna" uniqKey="Martinez A" first="Ariadna" last="Martinez">Ariadna Martinez</name>
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<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
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<author><name sortKey="Garcia, Sarah" sort="Garcia, Sarah" uniqKey="Garcia S" first="Sarah" last="Garcia">Sarah Garcia</name>
<affiliation wicri:level="2"><nlm:aff id="aff002"><addr-line>Personalis Inc., Menlo Park, California, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Personalis Inc., Menlo Park, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
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<author><name sortKey="Abelazeem, Amira A" sort="Abelazeem, Amira A" uniqKey="Abelazeem A" first="Amira A." last="Abelazeem">Amira A. Abelazeem</name>
<affiliation wicri:level="1"><nlm:aff id="aff004"><addr-line>Research Institute of Ophthalmology, Cairo, Egypt</addr-line>
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<wicri:regionArea>Research Institute of Ophthalmology, Cairo</wicri:regionArea>
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<author><name sortKey="Matynia, Anna" sort="Matynia, Anna" uniqKey="Matynia A" first="Anna" last="Matynia">Anna Matynia</name>
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<wicri:regionArea>Jules Stein Eye Institute and Department of Ophthalmology, University of California Los Angeles, Los Angeles, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
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</author>
<author><name sortKey="Parikh, Sachin" sort="Parikh, Sachin" uniqKey="Parikh S" first="Sachin" last="Parikh">Sachin Parikh</name>
<affiliation wicri:level="2"><nlm:aff id="aff005"><addr-line>Jules Stein Eye Institute and Department of Ophthalmology, University of California Los Angeles, Los Angeles, California, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<placeName><region type="state">Californie</region>
</placeName>
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<author><name sortKey="Sullivan, Lori S" sort="Sullivan, Lori S" uniqKey="Sullivan L" first="Lori S." last="Sullivan">Lori S. Sullivan</name>
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<placeName><region type="state">Texas</region>
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<author><name sortKey="Bowne, Sara J" sort="Bowne, Sara J" uniqKey="Bowne S" first="Sara J." last="Bowne">Sara J. Bowne</name>
<affiliation wicri:level="2"><nlm:aff id="aff006"><addr-line>Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States of America</addr-line>
</nlm:aff>
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<wicri:regionArea>Human Genetics Center, University of Texas Health Science Center, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
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<author><name sortKey="Daiger, Stephen P" sort="Daiger, Stephen P" uniqKey="Daiger S" first="Stephen P." last="Daiger">Stephen P. Daiger</name>
<affiliation wicri:level="2"><nlm:aff id="aff006"><addr-line>Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Human Genetics Center, University of Texas Health Science Center, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
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<author><name sortKey="Gorin, Michael B" sort="Gorin, Michael B" uniqKey="Gorin M" first="Michael B." last="Gorin">Michael B. Gorin</name>
<affiliation wicri:level="2"><nlm:aff id="aff005"><addr-line>Jules Stein Eye Institute and Department of Ophthalmology, University of California Los Angeles, Los Angeles, California, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Jules Stein Eye Institute and Department of Ophthalmology, University of California Los Angeles, Los Angeles, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
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<front><div type="abstract" xml:lang="en"><sec id="sec001"><title>Background</title>
<p>Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencing analysis was used to search for potentially causal DNA variants in a two-generation pedigree with apparent dominant retinitis pigmentosa.</p>
</sec>
<sec id="sec002"><title>Methods</title>
<p>Variant identification and analysis of three affected members (mother and two affected offspring) was performed via exome sequencing. Parental samples of the index case were used to establish inheritance. Follow-up testing of 94 additional retinitis pigmentosa pedigrees was performed via retrospective analysis or Sanger sequencing.</p>
</sec>
<sec id="sec003"><title>Results and Conclusions</title>
<p>A total of 136 high quality coding variants in 123 genes were identified which are consistent with autosomal dominant disease. Of these, one of the strongest genetic and functional candidates is a c.269A>G (p.Tyr90Cys) variant in <italic>ARL3</italic>
. Follow-up testing established that this variant occurred <italic>de novo</italic>
in the index case. No additional putative causal variants in <italic>ARL3</italic>
were identified in the follow-up cohort, suggesting that if <italic>ARL3</italic>
variants can cause adRP it is an extremely rare phenomenon.</p>
</sec>
</div>
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