Here I present: “Speech-Language Disorder”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SPCH1) 言語障礙。icd10=F80.9
INTRODUCTION.
Speech-language disorder type-1 (SPCH1) 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.
There is evidence that this form of speech-language disorder type-1 (SPCH1) is caused by heterozygous mutation in the 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 |
