Is autism passed from the mother or father? How does autism affect the brain? Is autism a neurocognitive disorder? Is autism a sensory disorder? Was there autism in the past? Are fragile X syndrome and autism spectrum disorder related?
Does autism come from the mother or father? The team found that mothers passed only half of their structural variants on to their autistic children—a frequency that would be expected by chance alone—suggesting that variants inherited from mothers were not associated with autism. But surprisingly,...
Additional clinical behavioral factors should also be considered, such as female-typical autism presentation (ie, female autism phenotype)30 or de novo variants and variation from rare variants not inherited additively or gene-environmental interactions. These effects could be examined in fully genotyped...
25,26 Thus, it is feasible that some paternal age–related de novo mutations may not result in adverse health outcomes in the offspring but still contribute the overall burden of mutations inherited by subsequent generations. Thus, it would be predicted that both paternal and grandpaternal age ...
No seizures, hypotonia or any clinical signs suggestive of muscular dystrophy were observed at the age of five years, when evaluated by us. WES revealed the above mentioned stop gain variant in dystrophin, NM_000109:c.11017A > T (p.Arg3673*), inherited from his mother. This variant...
'Inh' column lists the inheritance pattern of each CNV from parents to cases in the format ,inherited from mother.:,inherited from father.:,denovo.. The percentage of inheritance is listed in parenthesis. Italicized P values denote CNVs that survive multiple testing with Bonferroni adjustment in...
All duplications are inherited Family analysis showed that the duplication was inherited in all 13 carrier affected individuals (Figure 1). In 6 patients, the CNV was inherited from the mother, in 5 from the father, and in the remaining 2 patients, who are monozygotic twins, both parents carr...
There were no significant differences in the average fold coverage per sample across the cohort and no differences in the categories of (A) ASD affectation status, (B) sex, or (D) family member type – where family member type was simplified to include Mother, Father, Child (proband, siblin...
Gau et al. (2012) found two aberrations (4q12q13 duplication, 4.5 Mb and 5q32 deletion, 1.8 Mb), one inherited from the mother and second from the father, in a boy with autism. None of these aberrations were in the database of genomic variants. The authors postulated that the ...
The modified approach calculates the probability that a DNV has occurred, together with the probability that it was inherited from parents. We obtained the de novo probability, for each of the following five conditions: DNV was from mother. … a DNV was from father. … b The genotype of...