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Scientific Newsletter


Mutation Database
Mutations of the Bardet-Biedl Syndrome Type 4 Gene (BBS4)

Recent update from: 18.08.2002


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

0 0
The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.


BBS4 IVS3-2A-G tcag G-tcgg G
IVS3
Compound:
  • Homozygous

600374-0003 (1)

BBS4 Asn 165 His



Compound:
  • single


(1)

BBS4 Ala 364 Glu GAC-GCC


Compound:
  • Homozygous
Triallelic Inheriatnce:
  • homozygous T558I (BBS2)

600374-0003 (1)

BBS4 Leu 372 Pro



Compound:
  • single
Triallelic Inheriatnce:
  • HBD for BBS1?


(1)

BBS4 Ser 457 Ile



Compound:
  • single


(1)

BBS4 53del144bp deletion of exon 3 and 4 0052 03-04
  • Italian
  • Israelian Arab
  • Homozygous
  • Break points in Alu repeats
goto HGMD 600374-0002 (2)

BBS4 IVS4+1G-C G-C 0220 IVS4
  • European
  • Homozygous
goto HGMD
(2)

BBS4 IVS7-2A-C A-C 0406 IVS7
  • European
  • Homozygous
goto HGMD
(2)

BBS4 585insTG __-TG 0585 08
  • European
  • Single heterozygous
goto HGMD
(2)

BBS4 Arg 295 Pro CGA-CCA 0884 12
  • Bedouin
  • Initial family
  • Homozygous
goto HGMD 600374-0001 (2)

Polymorphism IVS1+42g/a

IVS1



(1)

Polymorphism IVS2-6a/g

IVS2



(1)

Polymorphism IVS4+91g/a

IVS4



(1)

Polymorphism IVS5+8A/C

IVS5



(1)

Polymorphism IVS5+28insA

IVS5



(1)

Polymorphism IVS6+17c/t

IVS6



(1)

Polymorphism IVS13+20c/t

IVS13



(1)

Polymorphism IVS15+18c/t

IVS15



(1)

Polymorphism IVS15-45c/t

IVS15



(1)

Polymorphism -17C/A
-017 5'UTR



(1)

Polymorphism 1061C/T
1061 13



(1)

Polymorphism 1561G/C
1561 16



(1)

References

  1. Katsanis,N., Eichers,E.R., Ansley,S.J., Lewis,R.A., Kayserili,H., Hoskins,B.E., Scambler,P.J., Beales,P.L., and Lupski,J.R. BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance. 2002; Am.J.Hum.Genet. 71: 22-29.
    Link to PubMed
    Goto Top

  2. Mykytyn,K., Braun,T., Carmi,R., Haider,N.B., Searby,C.C., Shastri,M., Beck,G., Wright,A.F., Iannaccone,A., Elbedour,K., Riise,R., Baldi,A., Raas-Rothschild,A., Gorman,S.W., Duhl,D.M., Jacobson,S.G., Casavant,T., Stone,E.M., and Sheffield,V.C. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 2001; Nat.Genet. 28: 188-191.
    Link to PubMed
    Goto Top


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This site is maintained and edited by
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