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PMID:10802661

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Citation

Stone, DL, Slavotinek, A, Bouffard, GG, Banerjee-Basu, S, Baxevanis, AD, Barr, M and Biesecker, LG (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat. Genet. 25:79-82

Abstract

McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). MKKS has been mapped in the Old Order Amish population to 20p12, between D20S162 and D20S894 (ref. 3). Here we describe the identification of a gene mutated in MKKS. We analysed the approximately 450-kb candidate region by sample sequencing, which revealed the presence of several known genes and EST clusters. We evaluated candidate transcripts by northern-blot analysis of adult and fetal tissues. We selected one transcript with widespread expression, MKKS, for analysis in a patient from the Amish pedigree and a sporadic, non-Amish case. The Old Order Amish patient was found to be homozygous for an allele that had two missense substitutions and the non-Amish patient was a compound heterozygote for a frameshift mutation predicting premature protein truncation and a distinct missense mutation. The MKKS predicted protein shows amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac and reproductive system development. We believe that this is the first description of a human disorder caused by mutations affecting a putative chaperonin molecule.

Links

PubMed Online version:10.1038/75637

Keywords

Abnormalities, Multiple/genetics; Amino Acid Sequence; Animals; Chaperonins/genetics; Child; Cloning, Molecular; Female; Heart Defects, Congenital/genetics; Humans; Infant; Male; Mice; Molecular Sequence Data; Mutation, Missense/genetics; Polydactyly/genetics; Syndrome; Urogenital Abnormalities/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:MKKS

enables

GO:0051082: unfolded protein binding

ECO:0000304: author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

HUMAN:MKKS

involved_in

GO:0008406: gonad development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:MKKS

involved_in

GO:0007507: heart development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:MKKS

involved_in

GO:0006457: protein folding

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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