Microcephalies Gene Panel
Dr. med. Imma Rost, Dr. rer. biol. hum. Soheyla Chahrokh-Zadeh
Primary autosomal recessive microcephalies are rare, genetically heterogeneous disorders of the cerebrum, which are characterized by a primary (congenital) microcephaly. At birth the head circumference is typically two standard deviations below the mean. Generally cognitive development is affected, other neurologic symptoms or malformations are rarely found. Most notably is the reduction of grey matter as a sign of a reduced number of neurons. Additionally heterotopias, cortical dysplasias or a polymicrogyria can be found as a result of a neural migration disorder. Since clinical distinction of the different types is often difficult, genetic diagnostics using next generation sequencing (NGS) can facilitate diagnosis.
All coding exons and their flanking intronic sequences from the genes in the microcephalies gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).