✦ LIBER ✦

Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome

✍ Scribed by Yi-Chun Wang; Mei-Ling Lin; Shio Jean Lin; Yueh-Chun Li; Shuan-Yow Li

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 222 KB
Volume: 10
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:5<393::aid-humu10>3.0.co;2-v

No coin nor oath required. For personal study only.

✦ Synopsis

The majority of cases involving fragile X syndrome are due to expansion of a (CGG)n trinucleotide repeat at the 5' untranslated region of the FMR-1 gene. Deletion and intragenic loss of function mutations of the FMR-1 gene also have been reported. Here, we report a C to T point mutation at the 14th nucleotide in intron 10 of the FMR-1 gene in three unrelated fragile X patients. However, the (CGG)n repeat of FMR-1 in those patients does not expand. To determine the effect of this mutation on the patients' FMR-1 transcripts, total RNA from peripheral blood cells was reverse transcribed and amplified by polymerase chain reaction (RT-PCR). Direct and subcloned sequencing of the RT-PCR products revealed that the transcripts from the allele with C to T mutation skip exon 10 entirely, resulting in a joining of exons 9 and 11. Deletion of exon 10 results in frame-shift and premature termination of translation, which removes the highly conserved region that encoding the KH2 and RGG box domains of FMRP. Interestingly, a male of the three patients has another G to A substitution in exon 15. However, the intron 10 mutation is sufficient for development of fragile X syndrome.

📜 SIMILAR VOLUMES

Point mutation in intron 10 of FMR1 is u

Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome

✍ JB Vincent; Hugh M. D. Gurling 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 1 views

DNA diagnosis of the fragile X syndrome

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

✍ van den Ouweland, Ans M. W. ;de Vries, Bert B. A. ;Bakker, P. Lida G. ;Deelen, W 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 450 KB 👁 2 views

A novel point mutation in a splice accep

A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping

✍ Takao Maruyama; Yasuko Miyake; Taku Yamamura; Shoji Tajima; Tohru Funahashi; Yuj 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB 👁 2 views

Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in