Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation

Abstract

Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described patients due to the presence of a deletion in the region of the gene or segment of chromosome 12p12.1, in the presence of missense mutation, the intellectual deficit and the dysmorphic features of the structure are not pronounced sharply and there is no anomaly in the development of other organs and systems.

Keywords

• lamb–shaffer syndrome
• exome sequencing
• sox5 gene
• monogenic syndromes
• retardation of motor and speech development
• intellectual deficiency