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FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Anna K Le Fevre¹, Sharelle Taylor, Neva H Malek

¹Hunter Genetics, Newcastle, NSW, Australia; John Hunter Children's Hospital, Newcastle, NSW, Australia.

American Journal of Medical Genetics. Part A

|November 12, 2013

Summary

Mutations in the FOXP1 gene are linked to global developmental delay and intellectual disability, impacting speech development. This study highlights a deletion causing FOXP1 haploinsufficiency, revealing a specific phenotype with speech and behavioral issues.

Keywords:

3p13 FOXP1 chromosomal microdeletion intellectual disability speech-language pathology

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Area of Science:

Genetics
Neurodevelopmental Disorders
Human Molecular Genetics

Background:

FOXP1 gene mutations are associated with global developmental delay (GDD), intellectual disability (ID), and speech impairments.
FOXP2 gene mutations are known to cause developmental speech and language disorders, including developmental verbal dyspraxia (DVD).
Cooperative function of FOXP1 and FOXP2 in development and overlapping expression patterns suggest a role for FOXP1 in speech and language.

Observation:

A male patient presented with an intragenic deletion leading to FOXP1 haploinsufficiency.
Phenotypic analysis of this patient and literature review revealed a pattern of GDD/ID with moderate to severe speech delay, particularly affecting expressive speech.
Distinctive facial features included a broad forehead, downslanting palpebral fissures, a short broad-tipped nose, macrocephaly, frontal hair upsweep, and prominent digit pads.

Findings:

Haploinsufficiency of FOXP1 is associated with a recognizable phenotype.
Developmental verbal dyspraxia (DVD) does not appear to be a distinct feature in FOXP1 haploinsufficiency.
Autistic traits and behavioral problems are likely associated with FOXP1 haploinsufficiency, with potential for congenital malformations.

Implications:

This research refines the understanding of the FOXP1-related neurodevelopmental disorder.
Identifying the specific phenotype associated with FOXP1 haploinsufficiency aids in diagnosis and genetic counseling.
Further research into FOXP1's role can inform therapeutic strategies for speech and behavioral disorders.