The ABCD Syndrome
ABCD syndrome is the acronym for albinism,
black lock, cell migration disorder of the neurocytes of the
gut, and sensorineural deafness. It has been found to be caused by mutation in
the endothelin B receptor gene. ABCD syndrome is defined as albinism, black lock, cell migration
disorder of the neurocytes of the gut, and deafness. It was
initially misdiagnosed and later discovered that a homozygous mutation in
the EDNRB gene causes ABCD syndrome. This helped scientists discover that it is
the same as type IV Waardenburg syndrome, also known as Shah-Waardenburg
syndrome.
Researchers in the past 20 years have determined that a gene
mutation, specifically a homozygous mutation in the EDNRB gene, is the cause of
ABCD syndrome. The advancement of technology led to new DNA material testing
methods and this discovery changed the view of ABCD syndrome 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 ABCD syndrome.
New findings introduced an important break in the beliefs
about ABCD syndrome because the endothelin B gene is a gene involved in
Shah-Waardenburg syndrome. The endothelin receptor B produces Waardenburg
syndrome type IV. Researchers began discussing the possibility that ABCD
syndrome was in fact not a syndrome; rather it was a type of another syndrome
known as Waardenburg. Discovering that the same gene is involved in ABCD and
Waardenburg syndrome is important because researchers can now look further into
ways to fix this crucial gene.