VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROMECitation formats

  • External authors:
  • Brigitte Glanzmann
  • Deepthi R. Abraham
  • Marlo Moller
  • Richard Glashoff
  • Ansia van Coller
  • Caitlin Uren
  • Glenda Durrheim
  • Michael Urban
  • Eileen G. Hoal
  • Monika M. Esser
  • Yanick J. Crow
  • Craig J. Kinnear

Standard

VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME. / Glanzmann, Brigitte; Abraham, Deepthi R.; Moller, Marlo; Glashoff, Richard; van Coller, Ansia; Uren, Caitlin; Durrheim, Glenda; Urban, Michael; Hoal, Eileen G.; Esser, Monika M.; Rice, Gillian, I; Crow, Yanick J.; Kinnear, Craig J.

In: Current Allergy & Clinical Immunology, Vol. 31, No. 4, 01.12.2018, p. 265-270.

Research output: Contribution to journalArticle

Harvard

Glanzmann, B, Abraham, DR, Moller, M, Glashoff, R, van Coller, A, Uren, C, Durrheim, G, Urban, M, Hoal, EG, Esser, MM, Rice, GI, Crow, YJ & Kinnear, CJ 2018, 'VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME' Current Allergy & Clinical Immunology, vol. 31, no. 4, pp. 265-270.

APA

Glanzmann, B., Abraham, D. R., Moller, M., Glashoff, R., van Coller, A., Uren, C., ... Kinnear, C. J. (2018). VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME. Current Allergy & Clinical Immunology, 31(4), 265-270.

Vancouver

Glanzmann B, Abraham DR, Moller M, Glashoff R, van Coller A, Uren C et al. VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME. Current Allergy & Clinical Immunology. 2018 Dec 1;31(4):265-270.

Author

Glanzmann, Brigitte ; Abraham, Deepthi R. ; Moller, Marlo ; Glashoff, Richard ; van Coller, Ansia ; Uren, Caitlin ; Durrheim, Glenda ; Urban, Michael ; Hoal, Eileen G. ; Esser, Monika M. ; Rice, Gillian, I ; Crow, Yanick J. ; Kinnear, Craig J. / VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME. In: Current Allergy & Clinical Immunology. 2018 ; Vol. 31, No. 4. pp. 265-270.

Bibtex

@article{db1b4f0281384b33b6b7948de64398a3,
title = "VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME",
abstract = "Aicardi-Gouti{\`e}res syndrome (AGS) is an encephalopathy of early childhood. This disorder is genetically heterogeneous, with mutations in seven genes having been identified to be disease-causing. Most patients with AGS present with poordevelopmental outcome and reduced survival in the neonatal period or early infancy. Significant variability can be found in the onset and phenotypic severity of the condition, sometimes even within the same family. Here we describe two sisters of mixed ancestry from the Western Cape province of South Africa presenting with skin manifestations of autoimmune disease resembling those of systemic lupus erythematosus (SLE) on histology but with negative serology. The two affected individuals carried a homozygous c.1681_1682delAG; p. Ser561Phefs*61 mutation in exon 15 of SAMHD1 on chromosome 20. Both parents and the unaffected brother are heterozygous for this variant. The molecular investigation yielded a unifying diagnosis for an unusual combination of physical findings and differential phenotypic expression in the sisters. A confirmed diagnosis allowed for informed genetic counselling and targeted investigation and screening for complications such as glaucoma in the older sister.",
keywords = "Aicardi-Goutieres syndrome, intra-familial variability, SAMHD1, South Africa",
author = "Brigitte Glanzmann and Abraham, {Deepthi R.} and Marlo Moller and Richard Glashoff and {van Coller}, Ansia and Caitlin Uren and Glenda Durrheim and Michael Urban and Hoal, {Eileen G.} and Esser, {Monika M.} and Rice, {Gillian, I} and Crow, {Yanick J.} and Kinnear, {Craig J.}",
year = "2018",
month = "12",
day = "1",
language = "English",
volume = "31",
pages = "265--270",
journal = "Current Allergy & Clinical Immunology",
issn = "1609-3607",
publisher = "Allergy Society of South Africa",
number = "4",

}

RIS

TY - JOUR

T1 - VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME

AU - Glanzmann, Brigitte

AU - Abraham, Deepthi R.

AU - Moller, Marlo

AU - Glashoff, Richard

AU - van Coller, Ansia

AU - Uren, Caitlin

AU - Durrheim, Glenda

AU - Urban, Michael

AU - Hoal, Eileen G.

AU - Esser, Monika M.

AU - Rice, Gillian, I

AU - Crow, Yanick J.

AU - Kinnear, Craig J.

PY - 2018/12/1

Y1 - 2018/12/1

N2 - Aicardi-Goutières syndrome (AGS) is an encephalopathy of early childhood. This disorder is genetically heterogeneous, with mutations in seven genes having been identified to be disease-causing. Most patients with AGS present with poordevelopmental outcome and reduced survival in the neonatal period or early infancy. Significant variability can be found in the onset and phenotypic severity of the condition, sometimes even within the same family. Here we describe two sisters of mixed ancestry from the Western Cape province of South Africa presenting with skin manifestations of autoimmune disease resembling those of systemic lupus erythematosus (SLE) on histology but with negative serology. The two affected individuals carried a homozygous c.1681_1682delAG; p. Ser561Phefs*61 mutation in exon 15 of SAMHD1 on chromosome 20. Both parents and the unaffected brother are heterozygous for this variant. The molecular investigation yielded a unifying diagnosis for an unusual combination of physical findings and differential phenotypic expression in the sisters. A confirmed diagnosis allowed for informed genetic counselling and targeted investigation and screening for complications such as glaucoma in the older sister.

AB - Aicardi-Goutières syndrome (AGS) is an encephalopathy of early childhood. This disorder is genetically heterogeneous, with mutations in seven genes having been identified to be disease-causing. Most patients with AGS present with poordevelopmental outcome and reduced survival in the neonatal period or early infancy. Significant variability can be found in the onset and phenotypic severity of the condition, sometimes even within the same family. Here we describe two sisters of mixed ancestry from the Western Cape province of South Africa presenting with skin manifestations of autoimmune disease resembling those of systemic lupus erythematosus (SLE) on histology but with negative serology. The two affected individuals carried a homozygous c.1681_1682delAG; p. Ser561Phefs*61 mutation in exon 15 of SAMHD1 on chromosome 20. Both parents and the unaffected brother are heterozygous for this variant. The molecular investigation yielded a unifying diagnosis for an unusual combination of physical findings and differential phenotypic expression in the sisters. A confirmed diagnosis allowed for informed genetic counselling and targeted investigation and screening for complications such as glaucoma in the older sister.

KW - Aicardi-Goutieres syndrome

KW - intra-familial variability

KW - SAMHD1

KW - South Africa

M3 - Article

VL - 31

SP - 265

EP - 270

JO - Current Allergy & Clinical Immunology

JF - Current Allergy & Clinical Immunology

SN - 1609-3607

IS - 4

ER -