Researchers in the past 20 years have determined that a gene mutation, specifically a homozygous mutation in the EDNRB gene, is the cause of<unk> . The advancement of technology led to new DNA material testing methods and this discovery changed the view of<unk>  completely. A homozygous mutation means that there was an identical mutation on both the maternal and paternal genes. The identifying clinical report stated the test was done by scanning the Kurdish family for mutations in the EDNRB gene and the EDN3 gene by using a test called denaturing gradient gel electrophoresis. The electrophoresis test takes advantage of electrical currents and differences in melting points of fragments of DNA or RNA to move them based on their molecular weight; the differences in mobility of the fragments then can be analyzed to determine different sequences and to detect individual alleles. Different nucleotides in DNA are codes for certain proteins, which are formed by different patterns of the base pairs adenine, thymine, guanine, and cytosine. The combination of adenine and thymine and guanine and cytosine align on the double strands of DNA. The test results found "an aberrant DGGE pattern of exon 3 of the EDNRB gene. The mutation was determined to be a homozygous C to T base pair transition at the amino acid level, causing a premature stop in gene translation." This specialized testing enables geneticists to recognize the gene mutation that is the cause of<unk> . New findings introduced an important break in the beliefs about<unk>  because the endothelin B gene is a gene involved in Shah-Waardenburg syndrome. The endothelin receptor B produces Waardenburg syndrome type IV. Discovering that the same gene is involved in both<unk>  and Waardenburg syndrome was important because researchers could look further into ways to fix this crucial gene.
ABCD syndrome
EAST syndrome
TEMPI syndrome
HAIR-AN syndrome
RIDDLE syndrome
IPEX syndrome
CLOVES syndrome
MELAS syndrome