GENETIC ENCYCLOPEDIA
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NM_003322.6(TULP1):c.718+2T>C AND Retinitis pigmentosa 14

Significance: Pathogenic
ClinVar: RCV000007790

Variant: NM_003322.6(TULP1):c.718+2T>C

Type: Variant
Allele: NM_003322.6(TULP1):c.718+2T>C 22404
Gene:
Type: single nucleotide variant
Location: Chr6: 35509632 - assembly GRCh38
Chr6: 35477409 - assembly GRCh37
References: OMIM: 602280.0009

Condition

Disease: Retinitis pigmentosa 14

Citation

    In 2 unrelated Afghan patients diagnosed with juvenile retinitis pigmentosa (see 613843), den Hollander et al. (2007) identified homozygosity for a 718+2T-C transition at the splice donor site in IVS7 of the TULP1 gene. Examination of the asymptomatic heterozygous parents of 1 of the patients revealed normal visual acuities and electroretinograms, but the mother had striking and easily discernible multiple superior and inferior subretinal yellow-white dots just outside of the vascular arcades.
PMID:18055821