Mutational analysis of PACT gene in Chinese patients with microtia.

摘要

Microtia is a congential defect of the ear that occurs from 0.76 to 4.34 per 10,000 births according to several large multinational registries of congenital malformations [Mastroiacovo et al., 1995; Harris et al., 1996; Suutarla et al., 2007]. A higher incidence of microtia has been reported among Asians than in Caucasians. The prevalence of microtia in China has been reported to be 5.18 per 10,000 births [Chen et al., 2006]. Although many cases of microtia are sporadic, others are clearly inherited. The patterns of inheritance include autosomal-dominant and autosomal-recessive heredity as well as multifactorial inheritance [Schmid et al., 1985; Orstavik et al., 1990; Otani et al., 1991; Gupta and Patton, 1995; Beck et al., 2005; Balikova et al., 2008].