Genomic coordinate 7: 107,660,828
Here I present: “Pendred Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PDS) 潘德雷德綜合症。icd10=E07.1
INTRODUCTION.
Pendred syndrome (PDS) is the most common syndromal deafness; and, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter).
Pendred syndrome (PDS) is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goiter with mild hypothyroidism (decreased thyroid gland function).
There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. It is named after Vaughan Pendred (1869–1946), the British doctor who first described the condition in 1896. Pendred syndrome (PDS) accounts for 15% of all cases of congenital deafness.
There is evidence Pendred syndrome (PDS) is caused by homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q22.3 and genomic coordinates 7:107,660,828-107,717,809. The screenshot of SLC26A4 gene 56,982 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SLC26A4 in the 7q22.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:107,169,003 | HBP1 | HMG-box transcription factor 1 |
| 7:107,201,372 | COG5 | Component of oligomeric golgi complex 5 |
| 7:107,470,057 | GPR22 | G protein-coupled receptor-22 |
| 7:107,580,007 | BCAP29 | B-cell receptor-associated protein 29 |
| 7:107,660,828 | SLC26A4 | Solute carrier family 26 member 4 |
| 7:107,744,142 | CBLL1 | Cas-Br-M ectopic retroviral transforming sequence like-1 |
| 7:107,765,469 | SLC26A3 | Solute carrier family 26 (sulfate transporter), member 3 |
| 7:107,800,001 | AUTS9 | Autism, susceptibility to, 9 |
| 7:107,800,001 | DFNB14 | Deafness, autosomal recessive 14 |
| 7:107,800,001 | DFNB17 | Deafness, autosomal recessive 17 |
