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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome

Aamuktha R. Karla, Amelie Pinard, Maura L. Boerio, Dimitri Hemelsoet (UGent) , Simon Tavernier (UGent) , Michel De Pauw (UGent) , Elke Vereecke (UGent) , Stuart Fraser, Michael J. Bamshad, Dongchuan Guo, et al.
(2024) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 194(4).
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Abstract
Aicardi-Goutieres syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early-onset encephalopathy with both neurologic and extraneurologic clinical findings. AGS has been associated with pathogenic variants in nine genes: TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR, IFIH1, LSM11, and RNU7-1. Diagnosis is established by clinical findings (encephalopathy and acquired microcephaly, intellectual and physical impairments, dystonia, hepatosplenomegaly, sterile pyrexia, and/or chilblains), characteristic abnormalities on cranial CT (calcification of the basal ganglia and white matter) and MRI (leukodystrophic changes), or the identification of pathogenic/likely pathogenic variants in the known genes. One of the genes associated with AGS, SAMHD1, has also been associated with a spectrum of cerebrovascular diseases, including moyamoya disease (MMD). In this report, we describe a 31-year-old male referred to genetics for MMD since childhood who lacked the hallmark features of AGS patients but was found to have compound heterozygous SAMHD1 variants. He later developed mitral valve insufficiency due to recurrent chordal rupture and ultimately underwent a heart transplant at 37 years of age. Thus, these data suggest that SAMHD1 pathogenic variants can cause MMD without typical AGS symptoms and support that SAMHD1 should be assessed in MMD patients even in the absence of AGS features.
Keywords
stroke, SAMHD1, moyamoya disease, Aicardi-Goutieres syndrome

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MLA
Karla, Aamuktha R., et al. “SAMHD1 Compound Heterozygous Rare Variants Associated with Moyamoya and Mitral Valve Disease in the Absence of Other Features of Aicardi-Goutières Syndrome.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 194, no. 4, 2024, doi:10.1002/ajmg.a.63486.
APA
Karla, A. R., Pinard, A., Boerio, M. L., Hemelsoet, D., Tavernier, S., De Pauw, M., … Milewicz, D. M. (2024). SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 194(4). https://doi.org/10.1002/ajmg.a.63486
Chicago author-date
Karla, Aamuktha R., Amelie Pinard, Maura L. Boerio, Dimitri Hemelsoet, Simon Tavernier, Michel De Pauw, Elke Vereecke, et al. 2024. “SAMHD1 Compound Heterozygous Rare Variants Associated with Moyamoya and Mitral Valve Disease in the Absence of Other Features of Aicardi-Goutières Syndrome.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 194 (4). https://doi.org/10.1002/ajmg.a.63486.
Chicago author-date (all authors)
Karla, Aamuktha R., Amelie Pinard, Maura L. Boerio, Dimitri Hemelsoet, Simon Tavernier, Michel De Pauw, Elke Vereecke, Stuart Fraser, Michael J. Bamshad, Dongchuan Guo, Bert Callewaert, and Dianna M. Milewicz. 2024. “SAMHD1 Compound Heterozygous Rare Variants Associated with Moyamoya and Mitral Valve Disease in the Absence of Other Features of Aicardi-Goutières Syndrome.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 194 (4). doi:10.1002/ajmg.a.63486.
Vancouver
1.
Karla AR, Pinard A, Boerio ML, Hemelsoet D, Tavernier S, De Pauw M, et al. SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2024;194(4).
IEEE
[1]
A. R. Karla et al., “SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome,” AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 194, no. 4, 2024.
@article{01HQ88KK6EGRJAAGV4K26E2GV9,
  abstract     = {{Aicardi-Goutieres syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early-onset encephalopathy with both neurologic and extraneurologic clinical findings. AGS has been associated with pathogenic variants in nine genes: TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR, IFIH1, LSM11, and RNU7-1. Diagnosis is established by clinical findings (encephalopathy and acquired microcephaly, intellectual and physical impairments, dystonia, hepatosplenomegaly, sterile pyrexia, and/or chilblains), characteristic abnormalities on cranial CT (calcification of the basal ganglia and white matter) and MRI (leukodystrophic changes), or the identification of pathogenic/likely pathogenic variants in the known genes. One of the genes associated with AGS, SAMHD1, has also been associated with a spectrum of cerebrovascular diseases, including moyamoya disease (MMD). In this report, we describe a 31-year-old male referred to genetics for MMD since childhood who lacked the hallmark features of AGS patients but was found to have compound heterozygous SAMHD1 variants. He later developed mitral valve insufficiency due to recurrent chordal rupture and ultimately underwent a heart transplant at 37 years of age. Thus, these data suggest that SAMHD1 pathogenic variants can cause MMD without typical AGS symptoms and support that SAMHD1 should be assessed in MMD patients even in the absence of AGS features.}},
  articleno    = {{e63486}},
  author       = {{Karla, Aamuktha R. and Pinard, Amelie and  Boerio, Maura L. and Hemelsoet, Dimitri and Tavernier, Simon and De Pauw, Michel and Vereecke, Elke and  Fraser, Stuart and  Bamshad, Michael J. and  Guo, Dongchuan and Callewaert, Bert and  Milewicz, Dianna M.}},
  issn         = {{1552-4825}},
  journal      = {{AMERICAN JOURNAL OF MEDICAL GENETICS PART A}},
  keywords     = {{stroke,SAMHD1,moyamoya disease,Aicardi-Goutieres syndrome}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{7}},
  title        = {{SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome}},
  url          = {{http://doi.org/10.1002/ajmg.a.63486}},
  volume       = {{194}},
  year         = {{2024}},
}
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