Speech-language disorder 1 (SPCH1) is one of several diseases associated with genes in the P subfamily of the forkhead box transcription factor family; FOXP2 is implicated in SPCH1. SPCH1 exhibits autosomal dominant inheritance. There is a single orthologous gene in Drosophila, FoxP, which has been used to model operant self-learning disorders; see FBhh0000641.
The human FOXP2 gene has not been introduced into flies.
[updated Oct. 2017 by FlyBase; FBrf0222196]
[SPEECH-LANGUAGE DISORDER 1; SPCH1](https://omim.org/entry/602081)
[FORKHEAD BOX P2; FOXP2](https://omim.org/entry/605317)
Children who fail to develop expressive and/or receptive language normally, in the absence of explanatory factors such as neurologic disorders, hearing impairment, or lack of adequate opportunity, are clinically described as having specific language impairment. [from MIM:602081; 2017.09.29]
The phenotype of SPCH1 is broad in nature, with virtually every aspect of grammar and language affected (Fisher et al., 1998; pubmed:9462748). Vargha-Khadem et al. (1998; pubmed:9770548) concluded that the disorder is characterized by abnormal development of several brain areas critical for both orofacial movements and sequential articulation, resulting in marked disruption of speech and expressive language. [from MIM:602081; 2017.09.29]
This form of speech and language abnormality (SPCH1) is caused by heterozygous mutation in the FOXP2 gene. [from MIM:602081; 2017.09.29]
The protein encoded by FOXP2 belongs to the P subfamily of the forkhead box transcription factor family. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. [Gene Cards, FOXP2; 2017.10.02]
The FOXP2 gene encodes forkhead box P2, a putative transcription factor containing a polyglutamine tract and a forkhead DNA binding domain (Lai et al., 2001; pubmed:11586359). [from MIM:605317; 2017.09.29]
Many to one (4 human to 1 Drosophila); the human genes are FOXP1, FOXP2, FOXP3, and FOXP4.
