case study was performed of a Kurdish family. Scientists completed a molecular analysis with DNA strands of the patients diagnosed with ABCD syndrome. Their task was to scan the sequences to find a mutation in the EDNRB gene, one of the most important protein-coding genes. When they completed the scan they "found a homozygous C to T transition resulting, at the amino acid level, in a premature stop codon." Then, they went back and defined that Shah-Waardenburg syndrome consisted majorly of "mutations in the ENDRB or END3 gene", along "with [some] SOX10 mutations". Therefore, the researchers confirmed that ABCD syndrome was a form of Shah-Waardenburg syndrome. The genetic tests that they performed on the patients DNA helped in identifying the appropriate diagnosis. In 2002, Whitkop and other scientists examined patients born with white hair, some black locks, and depigmented skin; he diagnosed them as having black lock albinism deafness syndrome (BADS). Those who were closely working with this case suggested that it was an autoimmune disorder rather than a genetic defect. However, soon after, they had a patient who was one of fourteen children of Kurdish parents. The pedigree they examined revealed autosomal-recessive inheritance which led to cell migration of the neurocytes in the gut and, therefore, they redefined the syndrome as ABCD syndrome. This revealed "a homozygous nonsense mutation in the EDNRB gene" meaning that ABCD syndrome was not a separate entity but rather the same as Shah-Waardenburg syndrome. See also List of cutaneous conditions References External links GeneCard for EDNRB OMIM Genetic disorder catalog - Waardenburg syndrome Disturbances of human pigmentation Cell surface receptor deficiencies Rare syndromes