1G) Both biallelic and hemi/homozygous DNMT3AMT showed inferior OS compared to monoallelic DNMT3AMT (P = 0.007; P = 0.012), while there was no significant difference between biallelic and hemi/homozygous in AML (P = 0.790; Supplementary Fig. S1). Biallelic DNMT3A impairment (...
The homozygous SUN5 (GenBank: NM_080675.3) missense variant identified in individual F1:II-3, c.824C>T (p.Thr275Met), alters a highly conserved amino acid residue and is predicted to be highly damaging (Table 1). The unaffected parents and two sisters were heterozygous carriers for the ...
1b). The probands from F4, F6 and F7, carrying homozygous missense variants, exhibited smaller amounts of calcifications with bilateral lenticular calcifications (TCS of 5) at 19 years of age (in F4), bilateral hippocampal, left putamen, and periventricular white matter adjacent to the right ...
By whole exome sequencing, we identified a homozygous variant inKCNJ16c.142A>T; p.(Lys48*) (NM_001291624.1; rs142011800; GRCh37.p13 chr17 NC_000017.10:g.68128370A>T) in the proband, which was heterozygous in both parents consistent with autosomal recessive inheritance. This variant has a ...
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Hum Genet. 2015;134: 869–79. 8. Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Loch- muller H, et al. SDHAF1, encoding a LYR complex-II specific ...