[Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa].
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.
Baiget
M
M
Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona. m.baiget@bcn.servicom.es
Calaf
M
M
Valverde
D
D
del Río
E
E
Reig
C
C
Carballo
M
M
Calvo
M T
MT
González-Duarte
R
R
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
D010727:Phosphoric Diester Hydrolases; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human
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.