Mainly autosomal gene mutations are suspected. These can arise de novo and act in an autosomal dominant manner or show autosomal recessive inheritance. However, only relatively few of these autosomal genes were identified. The reason is the often enormous genetic heterogeneity and a non-specific clinical phenotype in most patients. In the last two years first next generation sequencing (NGS) studies were published. Thus rare, recognizable syndromic forms were elucidated by comparison of mutations in several patients, several candidate genes for sporadic de novo autosomal dominant forms has been described by filtering by sequencing of parent-child trios and mutations in consanguineous families or founder populations were identified by autozygosity mapping. At the Institute all these approaches are tracked intensively (AG Prof Dr. med. André Reisand AG Dr. med. Christiane Zweier ).
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