2024-03-29T13:19:11Z
https://u-ryukyu.repo.nii.ac.jp/oai
oai:u-ryukyu.repo.nii.ac.jp:02016197
2022-02-22T04:16:48Z
1642838163960:1642838198944:1642838199408:1642838220713
1642838403551:1642838412624
[原著]Two novel mutations of the FGDl gene in Japanese patients with Aarskog Scott syndrome
Yanagi, Kumiko
Kaname, Tadashi
Chinen, Yasutsugu
Naritomi, Kenji
Aarskog-Scott syndrome
Faciogenital dysplasia 1 (FGD1) gene
novel mutations
allele-specific PCR
PCR-RFLP
Faciogenital dysplasia 1 (FGD1) gene has been identified as a responsible gene for Aarskog-Scott syndrome (AAS). We characterized two novel point mutations in two Japanese families with AAS, a missense mutation in exon 11 (1906C>T, R636W) and a nucleotide transition at the first position of the 5' splice donor site of intron 14 (IVS14+1G>A). The missense mutation probably results in reduced FGD1 function and the mutation at the splice donor site decreases FGDl gene expression. These mutations were identified by sequencing and were confirmed by allele-specific polymerase chain reaction (AS-PCR) or by PCR-restriction fragment length polymorphism (PCR-RFLP). The mutations were absent in twenty-five Japanese control subjects, which supports the notion that these mutations result in AAS. This study represents the first mutational analysis of FGD1 in Japanese AAS patients.
論文
http://purl.org/coar/resource_type/c_6501
琉球医学会
Ryukyu Medical Association
VoR
1346888X
0289-1530
AN10369445
琉球医学会誌 = Ryukyu Medical Journal
4
23
148
143
eng
open access
琉球医学会