Rothmund-thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation

Journal of Investigative Dermatology

Volumn 134, Issue 4, 2014, Pages 1152-1154

  López Lera, Alberto ^a,b   Torres Canizales, Juan ^a   Garrido, Sofía ^a,b   Morales, Adelaida ^c   López Trascasa, Margarita ^a,b  

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL GENERAL DE LANZAROTE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C3; IMMUNOGLOBULIN M;

ADULT; CASE REPORT; CATARACT; ERYTHEMA; GENE LOCUS; GLOMERULONEPHRITIS; HOMOZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME; SKIN DEFECT; WESTERN BLOTTING;

ADULT; CATARACT; COHORT STUDIES; COMPLEMENT C1Q; ERYTHEMA; EXONS; GLOMERULONEPHRITIS; GLYCINE; HOMOZYGOTE; HUMANS; INTRONS; MALE; MUTATION; PHENOTYPE; ROTHMUND-THOMSON SYNDROME; SERINE; SKIN DISEASES; SPAIN;

EID: 84897879965     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.444     Document Type: Letter

References (8)

1. Botto M, Dell'Agnola C, Bygrave AE et al. (1998) Homozygous C1q deficiency causes glomer-ulonephritis associated with multiple apopto-tic bodies. Nat Genet 19:56-9
2. Gaboriaud C, Juanhuix J, Gruez A et al. (2003) The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties. J Biol Chem 278:46974-82
3. Kwan KY, Wang JC (2001) Mice lacking DNA topoisomerase IIIbeta develop to maturity but show a reduced mean lifespan. Proc Natl Acad Sci USA 98:5717-21
4. Larizza L, Roversi G, Volpi L (2010) Rothmund-Thomson syndrome. Orphanet J Rare Dis 5:2, Review
5. Leyva-Cobián F, Moneo I, Mampaso F et al. (1981) Familial C1q deficiency associated with renal and cutaneous disease. Clin Exp Immunol 44:173-80
6. Roumenina LT, Sène D, Radanova M et al. (2011) Functional complement C1q abnormality leads to impaired immune complexes and apoptotic cell clearance. J Immunol 187: 4369-73
7. Schejbel L, Skattum L, Hagelberg S et al. (2011) Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations. Genes Immun 12: 626-34
8. Sherwood MC, Pincott JR, Goodwin FJ et al. (1987) Dominantly inherited glomerulonephritis and an unusual skin disease. Arch Dis Child 62:1278-80