Novel frameshift mutations in CRX associated with Leber congenital amaurosis

Détails

ID Serval
serval:BIB_A65AB95337E1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Novel frameshift mutations in CRX associated with Leber congenital amaurosis
Périodique
Human Mutation
Auteur⸱e⸱s
Rivolta  C., Peck  N. E., Fulton  A. B., Fishman  G. A., Berson  E. L., Dryja  T. P.
ISSN
1098-1004 (Electronic)
Statut éditorial
Publié
Date de publication
12/2001
Peer-reviewed
Oui
Volume
18
Numéro
6
Pages
550-1
Notes
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Dec
Résumé
Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment. Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod dystrophy, 13 with cone dystrophy, and 36 with recessive or isolate RP for changes in the CRX sequence, we found two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations. The first mutation, Tyr191(1-bp del), was a de novo change and the second change, Pro263(1-bp del) was inherited from the proband's affected father. Both mutations are predicted to encode mutant versions of CRX with altered carboxy termini. We also found a previously reported missense mutation, Arg41Gln, heterozygously in a 47-year-old patient with a form of RP. The missense change Val242Met was found in an isolate case of CORD and no controls; however, its pathogenicity remains uncertain because only limited segregation analysis was possible. A nonpathogenic missense change, Ala158Thr, was found to be a variant present at relatively high frequency among African-Americans.
Mots-clé
DNA/chemistry/genetics DNA Mutational Analysis Female *Frameshift Mutation Genotype Homeodomain Proteins/*genetics Humans Male Optic Atrophy, Hereditary, Leber/*genetics Trans-Activators/*genetics
Pubmed
Open Access
Oui
Création de la notice
24/01/2008 15:14
Dernière modification de la notice
20/08/2019 16:11
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