No evidence for triallelic inheritance of MKKS/BBS loci in amish mckusick-kaufman syndrome
In: American journal of medical genetics, Jg. 138A (2005), Heft 1, S. 32-34
academicJournal
- print, 11 ref
Zugriff:
It has been hypothesized that two mutations in one gene are not sufficient and that three mutations between two genes are required for penetrance in some cases of Bardet-Biedl syndrome (the so-called triallelic inheritance model). McKusick-Kaufman syndrome (MKS) is allelic to one form of Bardet-Biedl syndrome (BBS). We describe an Amish family with MKS, where three children were affected with homozygousMKKS (BBS6) mutations (H84Y and A242S on both alleles), their father was a carrier, and their mother was homozygous for the same MKKS mutations, but she was non-penetrant. Genotyping and/or sequencing of BBS1, BBS2, BBS3, BBS4, BBSS, BBS7, and BBS8 excluded triallelic inheritance for each gene either by an incompatible inheritance pattern or an absence of mutations in the coding region and the intronic splice junctions of these genes. We conclude that the triallelic model does not explain the incomplete penetrance of MKS.
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No evidence for triallelic inheritance of MKKS/BBS loci in amish mckusick-kaufman syndrome
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Autor/in / Beteiligte Person: | NAKANE, Takaya ; BIESECKER, Leslie G |
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Zeitschrift: | American journal of medical genetics, Jg. 138A (2005), Heft 1, S. 32-34 |
Veröffentlichung: | New York, NY: Wiley-Liss, 2005 |
Medientyp: | academicJournal |
Umfang: | print, 11 ref |
ISSN: | 0148-7299 (print) |
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