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Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier?

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Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier? / Lessel, Davor; Saha, Bidisha; Hisama, Fuki; Kaymakamzade, Bahar; Nurlu, Gulay; Gursoy-Özdemir, Yasemin; Thiele, Holger; Nürnberg, Peter; Martin, George M; Kubisch, Christian; Oshima, Junko.

in: AM J MED GENET A, Jahrgang 164A, Nr. 10, 01.10.2014, S. 2510-3.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Lessel, D, Saha, B, Hisama, F, Kaymakamzade, B, Nurlu, G, Gursoy-Özdemir, Y, Thiele, H, Nürnberg, P, Martin, GM, Kubisch, C & Oshima, J 2014, 'Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier?', AM J MED GENET A, Jg. 164A, Nr. 10, S. 2510-3. https://doi.org/10.1002/ajmg.a.36664

APA

Lessel, D., Saha, B., Hisama, F., Kaymakamzade, B., Nurlu, G., Gursoy-Özdemir, Y., Thiele, H., Nürnberg, P., Martin, G. M., Kubisch, C., & Oshima, J. (2014). Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier? AM J MED GENET A, 164A(10), 2510-3. https://doi.org/10.1002/ajmg.a.36664

Vancouver

Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y et al. Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier? AM J MED GENET A. 2014 Okt 1;164A(10):2510-3. https://doi.org/10.1002/ajmg.a.36664

Bibtex

@article{57e039477bcc45ca8fe89cf4b774b28f,
title = "Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier?",
abstract = "We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not explain his symptoms. Exome sequencing of the proband's blood DNA showed a homozygous c.626-1G > C mutation in intron 5 of the SAMHD1 gene, which encodes a triphosphohydrolase involved in the regulation of intracellular dNTP pools and which is mutated in Aicardi-Goutieres syndrome. The RNA studies confirmed aberrant splicing of exon 6, and family studies showed that both parents are heterozygous for this mutation. We conclude that mutations in SAMHD1 - in addition to causing an early-onset form of encephalopathy in Aicardi-Goutieres syndrome - may present with modest signs of accelerated aging similar to Werner syndrome. The extent to which heterozygosity at the WRN locus may modify the effect of biallelic SAMHD1 mutations is unknown. It is conceivable that synergistic effects of these two mutations might be responsible for the unusual phenotype.",
author = "Davor Lessel and Bidisha Saha and Fuki Hisama and Bahar Kaymakamzade and Gulay Nurlu and Yasemin Gursoy-{\"O}zdemir and Holger Thiele and Peter N{\"u}rnberg and Martin, {George M} and Christian Kubisch and Junko Oshima",
note = "{\textcopyright} 2014 Wiley Periodicals, Inc.",
year = "2014",
month = oct,
day = "1",
doi = "10.1002/ajmg.a.36664",
language = "English",
volume = "164A",
pages = "2510--3",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "10",

}

RIS

TY - JOUR

T1 - Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier?

AU - Lessel, Davor

AU - Saha, Bidisha

AU - Hisama, Fuki

AU - Kaymakamzade, Bahar

AU - Nurlu, Gulay

AU - Gursoy-Özdemir, Yasemin

AU - Thiele, Holger

AU - Nürnberg, Peter

AU - Martin, George M

AU - Kubisch, Christian

AU - Oshima, Junko

N1 - © 2014 Wiley Periodicals, Inc.

PY - 2014/10/1

Y1 - 2014/10/1

N2 - We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not explain his symptoms. Exome sequencing of the proband's blood DNA showed a homozygous c.626-1G > C mutation in intron 5 of the SAMHD1 gene, which encodes a triphosphohydrolase involved in the regulation of intracellular dNTP pools and which is mutated in Aicardi-Goutieres syndrome. The RNA studies confirmed aberrant splicing of exon 6, and family studies showed that both parents are heterozygous for this mutation. We conclude that mutations in SAMHD1 - in addition to causing an early-onset form of encephalopathy in Aicardi-Goutieres syndrome - may present with modest signs of accelerated aging similar to Werner syndrome. The extent to which heterozygosity at the WRN locus may modify the effect of biallelic SAMHD1 mutations is unknown. It is conceivable that synergistic effects of these two mutations might be responsible for the unusual phenotype.

AB - We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not explain his symptoms. Exome sequencing of the proband's blood DNA showed a homozygous c.626-1G > C mutation in intron 5 of the SAMHD1 gene, which encodes a triphosphohydrolase involved in the regulation of intracellular dNTP pools and which is mutated in Aicardi-Goutieres syndrome. The RNA studies confirmed aberrant splicing of exon 6, and family studies showed that both parents are heterozygous for this mutation. We conclude that mutations in SAMHD1 - in addition to causing an early-onset form of encephalopathy in Aicardi-Goutieres syndrome - may present with modest signs of accelerated aging similar to Werner syndrome. The extent to which heterozygosity at the WRN locus may modify the effect of biallelic SAMHD1 mutations is unknown. It is conceivable that synergistic effects of these two mutations might be responsible for the unusual phenotype.

U2 - 10.1002/ajmg.a.36664

DO - 10.1002/ajmg.a.36664

M3 - SCORING: Journal article

C2 - 24989684

VL - 164A

SP - 2510

EP - 2513

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 10

ER -