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Article

Phenotype of FOXP2 haploinsufficiency in a mother and son.

American journal of medical genetics. Part A - 1 Jan 2012

Rice Gregory M, Raca Gordana, Jakielski Kathy J, Laffin Jennifer J, Iyama-Kurtycz Christina M, Hartley Sigan L, Sprague Rae E, Heintzelman Anne T, Shriberg Lawrence D

Abstract excerpt

Disruptions in FOXP2, a transcription factor, are the only known monogenic cause of speech and language impairment. We report on clinical findings for two new individuals with a submicroscopic deletion of FOXP2: a boy with severe apraxia of speech and his currently moderately affected mother. A 1.57 Mb deletion on chromosome 7q31 was detected by array comparative genomic hybridization (aCGH). In addition to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22106036
DOI: 10.1002/ajmg.a.34354
PMCID: PMC3319495

Genes

FOXP2
MDFIC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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