Abstract
BACKGROUND: The Holt-Oram Syndrome (HOS) or the Heart-Hand syndrome is considered
as an overt autosomal hereditary disease with a complete influential effect and variable
expression that emerges due to a genetic mutation. It can be vividly characterized by heart
disorders and deficiencies in hand structure. Despite the existing genetic heterogeneity, the
variable integration between HOS and the T-BX5 gene from the T-BOX Gene Complex has been
observed during which various mutations have been reported in the affected patients. The TBOX
Gene Complex is located on chromosome 12 (12 q 24.1), and is able to encode a copying
factor. That has a conservative motive with 180 amino acids. The deficiencies in only 1/3 of
patients have been observed caused by the mutation of this gene.
CASE REPORT: This case was a 10-year-old child with hand disorders, incomplete
growth of clavicle, moving problems in elbow joint and shoulder, disorder in ventricle and
auricle walls. The disease was diagnosed as HOS, based on clinical examination and drawing the
family tree diagram. It was impossible to investigate molecular mutation due to inaccessibility
to the patient.
CONCLUSION: By investigating the family members and their deficiencies and imaging
disorder variables according to different reports as well as parents’ state of health, the HOS can
be defined as an overt heredity resulting from a new mutation in the germinating layer of sexual
cells in one of the parents. There is a weak possibility that the disease results from a mosaic
mutation in the male parent’s testicle or the female parent’s ovum. In this case, the probability
for the disease to be repeated in parents’ next children will be guessed between 1 and 50%.
Keywords: Holt-Oram Syndrome, Hand- Heart Syndrome, T-BOX
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