Background Identification of genes responsible for medically important traits is a major
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted DNA …

Fragile-X syndrome is caused by an unstable CGG trinucleotide repeat in the FMR1 gene at
Xq27. Intermediate alleles (51–200 repeats) can undergo expansion to the full mutation on …

Purpose Pathogenic variants in GJB2 are the most common cause of autosomal recessive
sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.…

Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis. …

Objective Array‐based comparative genomic hybridization (aCGH) is a new technique for
detecting submicroscopic deletions and duplications. There is limited information regarding its …

Hereditary hearing loss is genetically heterogeneous, with a large number of genes and
mutations contributing to this sensory, often monogenic, disease. This number, as well as large …

Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands
of different, severe causal alleles that vary among populations. The Israeli Jewish …

Nonsyndromic mental retardation (NSMR) is the diagnosis of exclusion in mentally retarded
individuals without additional abnormalities. We have recently identified a protein-truncating …

Preconception carrier screening allows identification of couples at risk to have offspring with
autosomal recessive and X‐linked disorders. In a current multiethnic world, screening …

Objective: In cases of nonvisualization of the fetal gallbladder (NVFGB), we investigated
whether amniotic fluid levels of γ-glutamyl transpeptidase (GGTP) can distinguish normal …