A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

作者：Scimone Concetta; Donato Luigi; Esposito Teresa; Rinaldi Carmela^*; D'Angelo Rosalia; Sidoti Antonina

来源：Human Genomics, 2017, 11(1): 18.

DOI：10.1186/s40246-017-0114-6

• Retinitis punctata albescens
• RLBP1
• Frameshift mutation
• Population study
• Geographical-area related mutation
• RP mutation spectrum

Background: Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA onset. Among these, the retinaldehyde-binding protein 1 gene, RLBP1, is the most frequently involved and several founder mutations were reported. We report results of a genetic molecular investigation performed on a large Sicilian family in which appears a young woman with RPA.
Results: The proband is in homozygous condition for a novel RLBP1 single-pair deletion, and her healthy parents, both heterozygous, are not consanguineous. Thenovelc. 398delC (p.P133Qfs*258) involves the exon 6 and leads to a premature stop codon, resulting in a truncated protein entirely missing of CRAL-TRIO lipid-binding domain. Pedigree analysis showed other non-consanguineous relatives heterozygous for the same mutation in the family. Extension of mutation research in the native town of the proband revealed its presence also in healthy subjects, in a heterozygous condition.
Conclusions: A novel RLBP1 truncating mutation was detected in a young girl affected by RPA. Although her parents are not consanguineous, the mutation was observed in a homozygous condition. Being them native of the same small Sicilian town of Fiumedinisi, the hypothesis of a geographical area-related mutation was assessed and confirmed.

• 出版日期2017-8-1