Across all ethnic groups, the most common carrier frequencies for clinically significant disorders were for cystic fibrosis, DFNB1 nonsyndromic hearing loss
and deafness, spinal muscular atrophy, familial Mediterranean fever, Smith-Lernli-Opitz syndrome, sickle cell disease/beta-thalassemia, and Gaucher disease.
Another study at the meeting reported a 25% success rate for establishing a diagnosis in nonsyndromic hearing loss
with adult onset (E.
Nonsyndromic hearing loss with the history of aminoglycoside exposure in Japanese population showed 33 per cent of A1555G mutation (87), whereas only 13 per cent in Chinese population (88).
Contribution of connexin 26 (GJB2) mutations and founder effect to nonsyndromic hearing loss in India.
Frequencies of gap-and tight-junction mutations in Turkish families with autosomal-recessive nonsyndromic hearing loss.
Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.
Distribution and frequencies of PDS(SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss
associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.