Genotype‐phenotype correlation in patients with TSC2-PKD1 contiguous
gene deletion syndrome
PKDTS is a progressive hereditary disease that leads to serious clinical
symptoms and death. PKDTS cases are reported less frequently. Therefore,
there are few studies on the correlation between genotype and phenotype.
Similar studies on whether the missing fragments are concentrated in the
thermogene are rare. Given the important value of diagnosing PKDTS, it
is necessary to develop a diagnostic process. We firstly reported the
clinical date of PKDTS patients in China ,also retrieved the case
reports of PKDTS published in the past 22 years and summarized the
clinical manifestations and genetic characteristics of these patients.
Many PKDTS patients have the following symptoms: under 20 years of age,
hemangiofibroma, multiple renal cysts, and mental retardation. We did
not have find a relationship between clinical phenotype and genotype.
The gene deletion of TSC2 and PKD1 is not a hotspot mutation. More
reports with detailed clinical descriptions of PKDTS patients and
Chinese patients show phenotypic heterogeneity. The gene deletion of
TSC2 and PKD1 expanded the mutation database. Moreover, mTOR inhibitors
are recommended for treatment. In addition, combining the advantages of
exon sequencing and MLPA, we firstly developed a diagnostic process for
the disease, which were helpful in detecting new PKDTS.