Report of a case with 14q12 triplication and literature review for FOXG1 related diseases / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene.</p><p><b>METHODS</b>The clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review.</p><p><b>RESULTS</b>The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases. Magnetic resonance imaging has documented heterotopic gray matter changes. aCGH showed a 1.9 Mb triplication in the 14q12 region, which involved the FOXG1 and a predicted gene 14orf23.</p><p><b>CONCLUSION</b>For patients with early-onset severe psychomotor retardation, epilepsy, microcephaly, severe cognitive impairment and encephalodysplasia, analysis of copy number variations and mutations of the FOXG1 gene is crucial for the diagnosis.</p>