Genomic coordinate 8:71,197,433
Here I present: “Branchiootorenal Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 齘肌腎綜合徵。 icd10=Q87.8
INTRODUCTION.
Branchiootorenal syndrome is an autosomal dominant genetic disorder involving the neck, ears, and kidneys. It is also known as Melnick-Fraser syndrome.
“Branchio-” refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck.
In people with branchiootorenal syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts.
Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence.
There is evidence branchiootorenal syndrome type-1 is caused by heterozygous mutation in the EYA transcriptional coactivator and phosphatase-1 (EYA1) gene on cytogenetic location 8q13.3 and genomic coordinates 8:71,197,433-71,548,094. The screenshot of the EYA1 gene 350,662 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides EYA1 in the 8q13.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:70,051,651 | PRDM14 | PR domain-containing protein 14 |
| 8:70,109,782 | NCOA2 | Nuclear receptor coactivator 2 |
| 8:70,573,218 | TRAM | Translocating chain-associating membrane protein |
| 8:70,637,266 | LACTB2 | Lactamase, beta-2 |
| 8:71,197,433 | EYA1 | EYA transcriptional coactivator and phosphatase 1 |
| 8:71,841,560 | MSC | Musculin |
| 8:72,000,001 | DEL8q21.11 | Chromosome 8q21.11 deletion syndrome |
| 8:72,000,001 | OPA6 | Optic atrophy 6 |
| 8:72,021,250 | TRPA1 | Transient receptor potential cation channel, subfamily A 1 |
| 8:72,537,225 | KCNB2 | Potassium channel, voltage-gated, shab-related subfamily 2 |
