An ancient founder mutation in PROKR2 impairs human reproduction
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چکیده
منابع مشابه
An ancient founder mutation in PROKR2 impairs human reproduction.
Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private, one causal mutation in the prokineticin receptor, PROKR2 L173R, appears unusually prevalent among GnRH-deficient patients of diverse geographic...
متن کاملLack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
M utations in RAPSN, a gene encoding rapsyn, a molecule that clusters acetylcholine receptors at the motor endplate, cause endplate acetylcholine receptor deficiency. Müller and colleagues recently reported that N88K is a frequent mutation in RAPSN. By genotyping 17 mutant K88 chromosomes for two RAPSN polymorphisms (IVS3-11delC and 456T/C) and a microsatellite marker D11S4117 (fig 1A) in 12 pa...
متن کاملONLINE MUTATION REPORT Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders
M utations in RAPSN, a gene encoding rapsyn, a molecule that clusters acetylcholine receptors at the motor endplate, cause endplate acetylcholine receptor deficiency. Müller and colleagues recently reported that N88K is a frequent mutation in RAPSN. By genotyping 17 mutant K88 chromosomes for two RAPSN polymorphisms (IVS3-11delC and 456T/C) and a microsatellite marker D11S4117 (fig 1A) in 12 pa...
متن کاملThe congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
O nly recently, mutations of the RAPSN gene have been recognised as causing acetylcholine receptor deficiency at the motor endplate resulting in early and late onset forms of congenital myasthenic syndromes (CMS). In most studies a single missense mutation of RAPSN (N88K) was detected either homozygously or compound heterozygously in numerous, unrelated patients of European and North American o...
متن کاملAn American founder mutation in MLH1.
Mutations in the mismatch repair genes cause Lynch syndrome (LS), conferring high risk of colorectal, endometrial and some other cancers. After the same splice site mutation in the MLH1 gene (c.589-2A>G) had been observed in four ostensibly unrelated American families with typical LS cancers, its occurrence in comprehensive series of LS cases (Mayo Clinic, Germany and Italy) was determined. It ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2012
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/dds264