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Scientific Newsletter


Mutation Database
 Mutations of the McKusick-Kaufman Gene (MKKS)

Recent update from: 12.03.2003

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.



BBS6 Ile 32 Met ATT-ATG
3
Compound:
  • S235P
 goto HGMD
(1)
BBS6 Thr 57 Ala ACC-GCC
3
Compound:
  • single
  • RP
  • Obesity
  • Learning disabilities
goto HGMD 604896-0010 (2)
BBS6 Gln 147 ter CAG-TAG
3
Compound:
  • single
Triallelic Inheritance:
  • Y24X/Q59X (BBS2)
goto HGMD 604896-0012 (1)
(3)
BBS6 Ser 235 Pro TCA-CCA
3
Compound:
  • I32M
 goto HGMD
(1)
BBS6 Leu 277 Pro CTT-CGT
3
Compound:
  • 280delT
  • RP
  • Obesity
  • Learning disabilities
  • Renal abnormality
goto HGMD 604896-0008 (2)
BBS6 Asp 285 Ala GAC-GCC
3

goto HGMD
(1)
BBS6 Cys 499 Ser TGT-TCT
6
Compound:
  • single
Triallelic Inheritance:
  • L168fsX170/R216X (BBS2)
goto HGMD
(3)
BBS6 Ser 511 Ala TCT-GCT
6

goto HGMD 604896-0013 (1)
BBS6 Arg 518 His CGT-CAT
6

goto HGMD
(1)
BBS6 280delT TATCAC-TA_CAC 0280 3
Homozygous
Heterozygous
  • RP
  • Obesity
  • Learning disabilities
  • Renal abnormality
goto HGMD 604896-0007 (2)
BBS6 Gly 52 Asp GGT-GAT 1042 3
  • RP
  • polydactyly
  • obesity
  • learning disability
Compound:
  • Y264X
goto HGMD 604896-0005 (4)
BBS6 1167delT T-_ 1167 3
  • RP
  • polydactyly
  • obesity
  • learning disability
  • diabetes melitus
  • renal anomalies

Homozygous

(4)
BBS6 1316delC C-_ 1316 3
  • RP
  • polydactyly
  • obesity
  • learning disability
  • diabetes melitus
  • renal anomalies

Homozygous together with 1324delGTA

(4)
BBS6 1324delGTA GTA-___ 1324 3
  • RP
  • polydactyly
  • obesity
  • learning disability
  • diabetes melitus
  • renal anomalies

Homozygous together with 1316delC
604896-0011 (4)
BBS6 Tyr 264 ter TAT-TAA 1679 3
  • RP
  • polydactyly
  • obesity
  • learning disability
Compound:
  • G52D
goto HGMD 604896-0006 (4)
BBS6 429delCT433delAG ACTTTAGTAGT- A__TT__TAGT 429

Compound:
  • 280delT
  • RP
  • Obesity
  • Learning disabilities
  • Renal abnormality
goto HGMD 604896-0009 (2)
BBS6, MKKS Tyr 37 Cys TAT-TGT
3
  • RP
  • Obesity
  • Learning disabilities
  • Renal abnormality
  • within thermosome domain
Compound:
  • Homozygous
  • 2111delGG
Triallelic Inheritance:
  • single N70S (BBS2)
goto HGMD 604896-0003 (2)
(3)
MKKS Ala 242 Ser GCA-TCA
3
Compound:
  • single
  • homozygous
  • in cis H84Y
Triallelic Inheritance:
  • homozygous Y24X (BBS2)
goto HGMD 604896-0002 (1)
MKKS His 84 Tyr CAT-TAT 1137 3
Compound:
  • homozygous
    in cis A242S
Lies within flip-flop domain 		goto HGMD 604896-0001 (5)
MKKS 2111delGG TTG GGA-TTG __A 2111 5
Compound:
  • Y37C
goto HGMD 604896-0004 (5)

References

  1. Beales,P.L., Katsanis,N., Lewis,R.A., Ansley,S.J., Elcioglu,N., Raza,J., Woods,M.O., Green,J.S., Parfrey,P.S., Davidson,W.S., and Lupski,J.R. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. 2001; Am.J.Hum.Genet. 68: 606-616.
    Link to PubMed
    Goto Top

  2. Katsanis,N., Beales,P.L., Woods,M.O., Lewis,R.A., Green,J.S., Parfrey,P.S., Ansley,S.J., Davidson,W.S., and Lupski,J.R. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 2000; Nat.Genet. 26: 67-70.
    Link to PubMed
    Goto Top

  3. Katsanis,N., Shroyer,N.F., Lewis,R.A., Cavender,J.C., Al Rajhi,A.A., Jabak,M., and Lupski,J.R. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 2001; Clin.Genet. 59: 424-429.
    Link to PubMed
    Goto Top

  4. Slavotinek,A.M., Stone,E.M., Mykytyn,K., Heckenlively,J.R., Green,J.S., Heon,E., Musarella,M.A., Parfrey,P.S., Sheffield,V.C., and Biesecker,L.G. Mutations in MKKS cause Bardet-Biedl syndrome. 2000; Nat.Genet. 26: 15-16.
    Link to PubMed
    Goto Top

  5. Stone,E.M., Haider,N.B., Jacobson,S.G., Cideciyan,A.V., Swiderski,R.E., Bennett,J., Weleber,R.G., Fishman,G.A., and Sheffield,V.C. Mutations in a photoreceptor-specific nuclear receptor (NR2E3) cause the enhanced S-cone syndrome. 2000; Invest.Ophthalm.Vis.Sci. 41: S94
    Goto Top

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