title: [Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa].
abstract: BACKGROUND
  Retinitis pigmentosa (RP) is a group of inherited eye disorders that affect photoreceptor and pigment epithelial function. Mutations in different genes involved in the phototransduction process have been described in patients with autosomal recessive RP.
  
  
  METHODS
  We examined the gene coding the beta subunit of the phosphodiesterase (PDEB) in a ARRP family with two affected sisters. SSCP (single stand conformational polymorphism) analysis of the coding region of the gene showed abnormal bands in two different exons. PCR products showing SSCP aberrant patterns were subsequently sequenced.
  
  
  RESULTS
  The two affected sisters had inherited from their father a PDEB gene with a known mutation (Gln298X) and a rare variant and from their mother a PDEB gene with a new mutation: Asp600Asn.
  
  
  CONCLUSIONS
  The nature of the mutations in the PDEB gene and their pattern of inheritance indicate that the lack of activity of the phosphodiesterase (PDE), a key enzyme in the visual phototransduction process, account for the RP phenotype in these patients.
authors.affiliation: Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona. m.baiget@bcn.servicom.es
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: M
authors.initials: M
authors.lastname: Calaf
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: E
authors.initials: E
authors.lastname: del Río
authors.forename: C
authors.initials: C
authors.lastname: Reig
authors.forename: M
authors.initials: M
authors.lastname: Carballo
authors.forename: M T
authors.initials: MT
authors.lastname: Calvo
authors.forename: R
authors.initials: R
authors.lastname: González-Duarte
mesh_terms: D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics*; D000483:Alleles; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010727:Phosphoric Diester Hydrolases; D017948:Retinal Rod Photoreceptor Cells; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
chemical_list: D010727:Phosphoric Diester Hydrolases; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human
vernacular_title: Identificación de dos mutaciones alélicas en el gen de la subunidad beta de la fosfodiesterasa en una familia española afectada de retinosis pigmentaria autosómica recesiva.