Genomic coordinate 7: 114,086,327
Here I present: “Speech-Language Disorder”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FOXP2) 言語障礙。icd10=F80.9
INTRODUCTION.
Speech-language disorder type-1 (SPCH) is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals were originally thought to have specific defects in the use of grammatical suffixation rules. The phenotype, however, is broader in nature, with virtually every aspect of grammar and language affected. 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.
Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. Forkhead box-P2 (FOXP2) was the first gene relevant to the human ability to develop language. A point mutation in forkhead box-P2 (FOXP2) co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of forkhead box-P2 (FOXP2) seem to be required for acquisition of normal spoken language.
There is evidence that this form of speech-language disorder type-1 (SPCH1) is caused by heterozygous mutation in the forkhead box-P2 (FOXP2) gene on cytogenetic location 7q31.1 and genomic coordinates 7:114,086,327-114,693,765. The screenshot of the FOXP2 gene 607,439 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FOXP2 in the 7q31.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:112,423,174 | IFRD1 | Interferon-related developmental regulator 1 |
| 7:112,819,147 | BMT2 | Base methyltransferase of 25S rRNA 2 homolog |
| 7:113,082,285 | GPR85 | G protein-coupled receptor-85 |
| 7:113,876,777 | PPP1R3A | Protein phosphatase 1, regulatory subunit 3A |
| 7:114,086,327 | FOXP2 | Forkhead box P2 |
| 7:114,922,094 | MDFIC | MYOD family inhibitor domain-containing protein |
| 7:115,935,152 | TFEC | Transcription factor EC |
| 7:116,210,539 | TES | Testin |
| 7:116,499,738 | CAV2 | Caveolin-2 |
| 7:116,525,009 | CAV1 | Caveolin-1 |
