Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes,
with an incidence of 1:15,000 to 1:50,000 live births. To better understand the
etiology of CdCs at the molecular level, we investigated theprotein–protein
interaction (PPI) network within the critical chromosomal region 5p15.3–p15.2
associated with CdCs using systemsbiology. Data were extracted from cytogenomic
findings from patients with CdCs. Based on clinical findings, molecular
characterization of chromosomal rearrangements, and systems biology data, we
explored possible genotype–phenotype correlations involving biological processes
connected with CdCs candidate genes. We identified biological processes
involving genes previously found to be associated with CdCs, such as
TERT
,
SLC6A3,
and
CTDNND2
, as well as novel candidate proteins with potential
contributions to CdCs phenotypes, including CCT5, TPPP, MED10, ADCY2, MTRR,
CEP72, NDUFS6, and MRPL36. Although further functional analyses of these
proteins are required, we identified candidate proteins for the development of
new multi-target genetic editing tools to study CdCs. Further research may
confirm those that are directly involved in the development of CdCs phenotypes
and improve our understanding of CdCs-associated molecular mechanisms.