Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia

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Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia : a novel founder variant in the FYCO1 gene. / Barashkov, Nikolay A.; Konovalov, Fedor A.; Borisova, Tuyara V. et al.

In: European journal of human genetics, Vol. 29, No. 6, 06.2021, p. 965-976.

Research output: Contribution to journal › Article › peer-review

Harvard

Barashkov, NA, Konovalov, FA, Borisova, TV, Teryutin, FM, Solovyev, AV, Pshennikova, VG, Sapojnikova, NV, Vychuzhina, LS, Romanov, GP, Gotovtsev, NN, Morozov, IV, Bondar, AA, Platonov, FA, Burtseva, TE, Khusnutdinova, EK, Posukh, OL & Fedorova, SA 2021, 'Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene', European journal of human genetics, vol. 29, no. 6, pp. 965-976. https://doi.org/10.1038/s41431-021-00833-w

APA

Barashkov, N. A., Konovalov, F. A., Borisova, T. V., Teryutin, F. M., Solovyev, A. V., Pshennikova, V. G., Sapojnikova, N. V., Vychuzhina, L. S., Romanov, G. P., Gotovtsev, N. N., Morozov, I. V., Bondar, A. A., Platonov, F. A., Burtseva, T. E., Khusnutdinova, E. K., Posukh, O. L., & Fedorova, S. A. (2021). Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene. European journal of human genetics, 29(6), 965-976. https://doi.org/10.1038/s41431-021-00833-w

Vancouver

Barashkov NA, Konovalov FA, Borisova TV, Teryutin FM, Solovyev AV, Pshennikova VG et al. Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene. European journal of human genetics. 2021 Jun;29(6):965-976. Epub 2021 Mar 25. doi: 10.1038/s41431-021-00833-w

Author

Barashkov, Nikolay A. ; Konovalov, Fedor A. ; Borisova, Tuyara V. et al. / Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia : a novel founder variant in the FYCO1 gene. In: European journal of human genetics. 2021 ; Vol. 29, No. 6. pp. 965-976.

BibTeX

@article{910b2301500a4b0380ee6cb7fff9fdd3,

title = "Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene",

abstract = "Congenital autosomal recessive cataract with unknown genetic etiology is one of the most common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia, Russia). To identify the genetic cause of congenital cataract spread in this population, we performed whole-exome sequencing (Illumina NextSeq 500) in one Yakut family with three affected siblings whose parents had preserved vision. We have revealed the novel homozygous c.1621C>T transition leading to premature stop codon p.(Gln541*) in exon 8 of the FYCO1 gene (NM_024513.4). Subsequent screening of c.1621C>T p.(Gln541*) revealed this variant in a homozygous state in 25 out of 29 Yakut families with congenital cataract (86%). Among 424 healthy individuals from seven populations of Eastern Siberia (Russians, Yakuts, Evenks, Evens, Dolgans, Chukchi, and Yukaghirs), the highest carrier frequency of c.1621C>T p.(Gln541*) was found in the Yakut population (7.9%). DNA samples of 25 homozygous for c.1621C>T p.(Gln541*) patients with congenital cataract and 114 unaffected unrelated individuals without this variant were used for a haplotype analysis based on the genotyping of six STR markers (D3S3512, D3S3685, D3S3582, D3S3561, D3S1289, and D3S3698). The structure of the identified haplotypes indicates a common origin for all of the studied mutant chromosomes bearing c.1621C>T p.(Gln541*). The age of the с.1621C>T p.(Gln541*) founder haplotype was estimated to be approximately 260 ± 65 years (10 generations). These findings characterize Eastern Siberia as the region of the world with the most extensive accumulation of the unique variant c.1621C>T p.(Gln541*) in the FYCO1 gene as a result of the founder effect.",

author = "Barashkov, {Nikolay A.} and Konovalov, {Fedor A.} and Borisova, {Tuyara V.} and Teryutin, {Fedor M.} and Solovyev, {Aisen V.} and Pshennikova, {Vera G.} and Sapojnikova, {Nadejda V.} and Vychuzhina, {Lyubov S.} and Romanov, {Georgii P.} and Gotovtsev, {Nyurgun N.} and Morozov, {Igor V.} and Bondar, {Alexander A.} and Platonov, {Fedor A.} and Burtseva, {Tatiana E.} and Khusnutdinova, {Elza K.} and Posukh, {Olga L.} and Fedorova, {Sardana A.}",

year = "2021",

month = jun,

doi = "10.1038/s41431-021-00833-w",

language = "English",

volume = "29",

pages = "965--976",

journal = "European journal of human genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "6",

}

RIS

TY - JOUR

T1 - Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia

T2 - a novel founder variant in the FYCO1 gene

AU - Barashkov, Nikolay A.

AU - Konovalov, Fedor A.

AU - Borisova, Tuyara V.

AU - Teryutin, Fedor M.

AU - Solovyev, Aisen V.

AU - Pshennikova, Vera G.

AU - Sapojnikova, Nadejda V.

AU - Vychuzhina, Lyubov S.

AU - Romanov, Georgii P.

AU - Gotovtsev, Nyurgun N.

AU - Morozov, Igor V.

AU - Bondar, Alexander A.

AU - Platonov, Fedor A.

AU - Burtseva, Tatiana E.

AU - Khusnutdinova, Elza K.

AU - Posukh, Olga L.

AU - Fedorova, Sardana A.

PY - 2021/6

Y1 - 2021/6

N2 - Congenital autosomal recessive cataract with unknown genetic etiology is one of the most common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia, Russia). To identify the genetic cause of congenital cataract spread in this population, we performed whole-exome sequencing (Illumina NextSeq 500) in one Yakut family with three affected siblings whose parents had preserved vision. We have revealed the novel homozygous c.1621C>T transition leading to premature stop codon p.(Gln541*) in exon 8 of the FYCO1 gene (NM_024513.4). Subsequent screening of c.1621C>T p.(Gln541*) revealed this variant in a homozygous state in 25 out of 29 Yakut families with congenital cataract (86%). Among 424 healthy individuals from seven populations of Eastern Siberia (Russians, Yakuts, Evenks, Evens, Dolgans, Chukchi, and Yukaghirs), the highest carrier frequency of c.1621C>T p.(Gln541*) was found in the Yakut population (7.9%). DNA samples of 25 homozygous for c.1621C>T p.(Gln541*) patients with congenital cataract and 114 unaffected unrelated individuals without this variant were used for a haplotype analysis based on the genotyping of six STR markers (D3S3512, D3S3685, D3S3582, D3S3561, D3S1289, and D3S3698). The structure of the identified haplotypes indicates a common origin for all of the studied mutant chromosomes bearing c.1621C>T p.(Gln541*). The age of the с.1621C>T p.(Gln541*) founder haplotype was estimated to be approximately 260 ± 65 years (10 generations). These findings characterize Eastern Siberia as the region of the world with the most extensive accumulation of the unique variant c.1621C>T p.(Gln541*) in the FYCO1 gene as a result of the founder effect.

AB - Congenital autosomal recessive cataract with unknown genetic etiology is one of the most common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia, Russia). To identify the genetic cause of congenital cataract spread in this population, we performed whole-exome sequencing (Illumina NextSeq 500) in one Yakut family with three affected siblings whose parents had preserved vision. We have revealed the novel homozygous c.1621C>T transition leading to premature stop codon p.(Gln541*) in exon 8 of the FYCO1 gene (NM_024513.4). Subsequent screening of c.1621C>T p.(Gln541*) revealed this variant in a homozygous state in 25 out of 29 Yakut families with congenital cataract (86%). Among 424 healthy individuals from seven populations of Eastern Siberia (Russians, Yakuts, Evenks, Evens, Dolgans, Chukchi, and Yukaghirs), the highest carrier frequency of c.1621C>T p.(Gln541*) was found in the Yakut population (7.9%). DNA samples of 25 homozygous for c.1621C>T p.(Gln541*) patients with congenital cataract and 114 unaffected unrelated individuals without this variant were used for a haplotype analysis based on the genotyping of six STR markers (D3S3512, D3S3685, D3S3582, D3S3561, D3S1289, and D3S3698). The structure of the identified haplotypes indicates a common origin for all of the studied mutant chromosomes bearing c.1621C>T p.(Gln541*). The age of the с.1621C>T p.(Gln541*) founder haplotype was estimated to be approximately 260 ± 65 years (10 generations). These findings characterize Eastern Siberia as the region of the world with the most extensive accumulation of the unique variant c.1621C>T p.(Gln541*) in the FYCO1 gene as a result of the founder effect.

UR - http://www.scopus.com/inward/record.url?scp=85103191263&partnerID=8YFLogxK

U2 - 10.1038/s41431-021-00833-w

DO - 10.1038/s41431-021-00833-w

M3 - Article

C2 - 33767456

AN - SCOPUS:85103191263

VL - 29

SP - 965

EP - 976

JO - European journal of human genetics

JF - European journal of human genetics

SN - 1018-4813

IS - 6

ER -

ID: 28202750