Phenotypic heterogeneity occurs when more than one phenotype is caused by allelic mutations (e.g., different mutations in the same gene) (Table 62-4). For example, laminopathies are monogenic multisystem disorders that result from mutations in the LMNA gene, which encodes the nuclear lamins A and C. Twelve autosomal dominant and four autosomal recessive disorders are caused by mutations in the LMNA gene.
Human genetics is the medical field with the most rapid and, one can say, overwhelming
progress. The medical practitioner constantly needs to be up-to-date on the newest developments
in his field. The diversity and rapid dynamics of advancements in genetics can sometimes
overcome the assimilation possibilities of one person; thus, overspecialization for narrowing
and deepening the research focus is needed. Consequently, expert opinion is much
valued. This book aims to provide exactly such opinions regarding several genetic diseases.