The aims of the present study were firstly, to describe the physical phenotype of affected Afrikaner patients with confirmed founder FANCA mutations, and secondly, to compare this phenotype with the physical phenotype in black South African patients with FA caused by the homozygous FANCG
deletion mutations described by Feben et al.
showed that a mitochondrial factor WAH-1 promotes this externalization through a scramblase, as demonstrated by a
deletion mutation of scrm-1 (SCRaMblase, tm698).
However, due to lack of flanking exons of hot spot region in this study, it is worthwhile or recommended to confirm the
deletion mutation by latest high-throughput next-generation techniques, namely, MLPA, direct sequencing or arrayCGH; the functional properties of the dystrophin proteins and to correlate such important cases for further appraisal.
The genotypes and clinical phenotypes of 1038 in-frame
deletion mutation cases were analyzed, and the numbers and percentages of cases that did not meet the reading-frame rule were calculated.
The exonic single base
deletion mutations in patients FA82, FA121 and FA199 all resulted in frameshift mutations.
Association analysis between the
deletion mutation and carcass and meat quality traits was performed also in 394 pigs of the "Large White x Meishan" [F.
africanum by spoligotyping, single nucleotide polymorphisms, a
deletion mutation, and phenotypic traits, confirming it as a cause of tuberculosis in the United States.
3) in the patient revealed two novel mutations [Figure 1]c: a heterozygous in-frame insertion
deletion mutation c.
Interestingly all three mixed-ancestry families had at least one suspected
deletion mutation.
A novel
deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
As a result, the
deletion mutation rate is much higher in mtDNA compared with that in nuclear DNA [4].
4%) of the 23 MSIH endometrial carcinomas had the presence of a 1-, 2-, or 3-base
deletion mutation within this element, resulting in an A12, A11, or A10 repeats, respectively.
