Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene.

ABSTRACT: Pathogenic variants of FOXP2 gene were identified first as a monogenic cause of childhood apraxia of speech (CAS), a complex disease that is associated with an impairment of the precision and consistency of movements underlying speech, due to deficits in speech motor planning and programming. FOXP2 variants are heterogenous; single nucleotide variants and small insertions/deletions, intragenic and large-scale deletions, as well as disruptions by structural chromosomal aberrations and uniparental disomy of chromosome 7 are the most common types of mutations. FOXP2-related speech and language disorders can be classified as "FOXP2-only," wherein intragenic mutations result in haploinsufficiency of the FOXP2 gene, or "FOXP2-plus" generated by structura

SUBMITTER: Nagy O 

PROVIDER: S-EPMC8417935 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature