Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.
Am J Kidney Dis
; 62(5): 978-83, 2013 Nov.
Article
en En
| MEDLINE
| ID: mdl-23870792
ABSTRACT
We report a male infant who presented at 8 months of age with atypical hemolytic uremic syndrome (aHUS) responsive to plasma therapy. Investigation showed him to have complement factor H (CFH) deficiency associated with a homozygous CFH mutation (c.2880delT [p.Phe960fs]). Mutation screening of the child's parents revealed that the father was heterozygous for this change but that it was not present in his mother. Chromosome 1 uniparental isodisomy of paternal origin was confirmed by genotyping chromosome 1 SNPs. CD46 SNP genotyping was undertaken in this individual and another patient with CFH deficiency associated with chromosome 1 uniparental isodisomy. This showed a homozygous aHUS risk haplotype (CD46GGAAC) in the patient with aHUS and a homozygous glomerulonephritis risk haplotype (CD46AAGGT) in the patient with endocapillary glomerulonephritis. We also showed that FHL-1 (factor H-like protein 1) was present in the patient with aHUS and absent in the patient with glomerulonephritis. This study emphasizes that modifiers such as CD46 and FHL-1 may determine the kidney phenotype of patients who present with homozygous CFH deficiency.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Factor H de Complemento
/
Disomía Uniparental
/
Genotipo
/
Síndrome Hemolítico-Urémico
/
Enfermedades Renales
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Kidney Dis
Año:
2013
Tipo del documento:
Article
País de afiliación:
Reino Unido