Homozygous loss - of - function mutations in SOHLH1 in patients
with nonsyndromic hypergonadotropic hypogonadism.
Manou Sommen and colleagues report a study of a targeted resequencing panel for hearing loss was developed including 79 genes
for nonsyndromic hearing loss (NSH) L and selected forms of syndromic hearing loss.They established a straightforward variant classification system to deal with the large number of variants encountered and showed that after GJB2, the most commonly mutated genes in a Western - European population are TMC1, MYO15A, and MYO7A.
There are at least six genes that look to be under positive selection in cats that are associated with hearing capacity; we know this because mutations in these genes cause
nonsyndromic recessive hearing loss or deafness.
Additional populations included autism spectrum disorder (142 subjects),
nonsyndromic mental retardation (95 subjects), and control subjects (568 subjects).
We performed exome sequencing in 13 parent - offspring trios and 112 unrelated individuals with
nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2.
12:00 - 12:15 pm: Identification of non-coding variants at 1p22 that are pathogenic for
nonsyndromic orofacial clefting R. Cornell, University of Iowa, et al
Additionally, when the researchers checked their network against the DNA of patients
with nonsyndromic, or «stand - alone,» autism, they found abnormalities involving three of the network genes.
Distinct genetic architectures for syndromic and
nonsyndromic congenital heart defects identified by exome sequencing
Today, the International and American Associations for Dental Research (IADR / AADR) published a study titled «Spectrum of Dental Phenotypes in
Nonsyndromic Orofacial Clefting,» which is the largest international cohort to date of children with nonsyndromic clefts, their relatives and controls.