Mutation Database
 Mutations of the all-trans/11-cis Retinol Dehydrogenase Gene (RDH12)

Recent update from: 20.02.05

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Sequence

0 0
The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as used in the recent publications of RDH12 mutations.





CSRD Ile 51 Asn ATT>AAT 0152 2
Heterozygous:
Compound
  • R61X
Family 1
608830-0012 (2)

CSRD Arg 62 ter CGA>TGA 0184 2
Heterozygous:
Compound
  • I51N
  • R49M
Family 1
American 33
608830-0005 (1)
(2)

Polymorphism IVS2-14ins t t ttgt/t tttgt 0187 IVS2

Family 6

(2)

Polymorphism IVS2+5a/t ccac t/cctc t 0187 IVS2

Family 2

(2)

Polymorphism IVS2+60g/a ggg cc/gga cc 0187 IVS2

Family 2

(2)

CSRD Leu 99 Ile CTA>ATA 0295 3
Heterozygous:
Compound
  • G127X
Family 2
608830-0010 (2)

CSRD Gly 127 ter GGA>TGA 0379 4
Heterozygous:
Compound
  • L99I
Family 2
608830-0006 (2)

CSRD His 151 Asn CAC>AAC 0451 5
Heterozygous:
Compound
  • 806del5bp
Family 4
608830-0007 (2)

CSRD His 151 Asp CAC>GAC 0451 5
Homozygous Family 5
608830-0009 (2)

Polymorphism Gln 161 Arg CAG>CGG 0482 5
In GenBank entry AL049779 cd161 is given as Arg while Gln is given in the cDNA sequence in GenBank entry NM_152443.
Family 1

(1)}
(2)

CSRD Ser 175 Pro TCG>TGG 0523 5
Heterozygous:
Compound
  • Y226C
Family 6
608830-0011 (2)

CSRD Gln 189 ter CAG>TAG 0565 5
Homozygous Turkish 839
608830-0003 (1)

Polymorphism IVS5+1g>a CAA G gtaag>CAA G ataag 0658 IVS5

Family 7
608830-0013 (2)

CSRD Tyr 226 Cys TAC>TGC 0658 6
Homozygous
Heterozygous:
Compound
  • S175P
loss of function by enzyme assay Family 6
3 consanguineous Austrian families
2 sporadic Austrian index cases
608830-0001 (1)
(2)

Polymorphism IVS5-25t/a ga tct/ga act 0659 IVS5

Family 6

(2)

CSRD Pro 230 Ala CAG>TAG 0687 6
Heterozygous:
Compound
  • 806del5bp
Family 3
608830-0008 (2)

CSRD 806delCCCTG TGC GCC CTG GCT>TGC G__ ___ GCT 0806 6
Homozygous
Heterozygous
Compound
  • H151N
  • P230A
Family 3
Family 4
Family 7
Family 8
German 828
608830-0002 (1)}
(2)

CSRD Thr 49 Met ACG>ATG 1446 2
Heterozygous
Compound:
  • R62X
increase of 11c>at and decrease of at>11c activity
American 33
608830-0004 (1)

Polymorphism IVS4+24a/g aaaaa at/aaaga at 448 IVS4

Family 5

(2)

References

  1. Janecke,A.R., Thompson,D.A., Utermann,G., Becker,C., Hubner,C.A., Schmid,E., McHenry,C.L., Nair,A.R., Ruschendorf,F., Heckenlively,J., Wissinger,B., Nurnberg,P., and Gal,A. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 2004; Nat.Genet. 36: 850-854.
    Link to PubMed
    Goto Top
  2. Perrault,I., Hanein,S., Gerber,S., Barbet,F., Ducroq,D., Dollfus,H., Hamel,C., Dufier,J.L., Munnich,A., Kaplan,J., and Rozet,J.M. Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis. 2004; Am.J.Hum.Genet. 75:
    Link to PubMed
    Goto Top
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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz