Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 235-237

  Ravenscroft, Jane C ^a   Suri, Mohnish ^a   Rice, Gillian I ^b   Szynkiewicz, Marcin ^b   Crow, Yanick J ^b  

^a NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Aicardi Gouti res syndrome; Familial chilblain lupus; SAMHD1; Systemic lupus erythematosus; TREX1

Indexed keywords

ASPARAGINE; CARRIER PROTEIN; HYDROXYCHLOROQUINE; ISOLEUCINE; NIFEDIPINE; PROTEIN SAMHD1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILBLAIN LUPUS; CLINICAL FEATURE; DERMATITIS; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LETTER; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTOSENSITIVITY DISORDER; PRIORITY JOURNAL; SKIN BIOPSY; SKIN EDEMA; SKIN LUPUS ERYTHEMATOSUS; SUN EXPOSURE;

ADOLESCENT; CHILBLAINS; FEMALE; GENES, DOMINANT; HUMANS; LUPUS ERYTHEMATOSUS, CUTANEOUS; MALE; MIDDLE AGED; MONOMERIC GTP-BINDING PROTEINS; MUTATION; PHENOTYPE;

EID: 78650658122     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33778     Document Type: Letter

References (11)

1. Crow YJ, Rehwinkel J. 2009. Aicardi-Goutieres syndrome and related phenotypes: Linking nucleic acid metabolism with autoimmunity. Hum Mol Genet 18: R130-R136.
2. Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. 2006. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 38: 917-920.
3. Crowson AN, Magro CM. 1997. Idiopathic perniosis and its mimics: A clinical and histological study of 38 cases. Hum Pathol 28: 478-484.
4. Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. 2010. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet Part A 152A: 938-942.
5. Haaxma CA, Crow YJ, van Steensel MAM, Rice GI, Verbeek MM, Willemsen MA. 2010. A de novo p.D18N mutation in TREX1 in a patient with Aicardi-Goutières syndrome. Am J Med Genet Part A 152A: 2612-2617.
6. Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N. 2007a. A mutation that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med 85: 531-537.
7. Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hubner N. 2007b. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 39: 1065-1067.
8. Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, Mitchell P, Mitra D, Friswell M, Nelson J, Shalev SA, Rice GI, Gornall H, Szynkiewicz M, Aymard F, Ganesan V, Prendiville J, Livingston JH, Crow YJ. 2010. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol 52: 725-732.
9. Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ. 2007a. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome. Am J Hum Genet 80: 811-815.
10. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De PC, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der AN, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. 2007b. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 81: 713-725.
11. Rice GI, Bond J, Asipu A, Brunette R, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Coulthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla A, Gener B, Hamel BCJ, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lieven Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville J, Rasmussen M, Shalev SA, Soler D, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson D, Bonthron DT, Crow YJ. 2009. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 41: 829-832.