Patients recruited from the oncogenetic department with multiple cancers (348) were more likely to carry pathogenic mutations than those with a single cancer (1422) (27.3% vs. 13.39% p < 0.001). However, if the multiple primary cancers cannot be linked to the same hereditary predisposition syndrome, the prevalence of pathogenic variants is not significantly different from patients with a single tumor (14.39%–11.39%, p = 0.318). In our study, the number of cancers is therefore not a sufficient argument for genetic testing.

We found a novel variant of the ANK2 gene for the first time in China, broadened the genetic and phenotypic spectrum of the ANK2 gene. ANK2 gene variants can cause ASD, EP, ASD with EP, developmental delay and mental retardation in common, poor language communication skills, language and learning disorders, anxiety, agitation mood disorder, attention-deficit/hyperactivity disorder, clinical ASD, EP, ASD common EP should consider the ANK2 gene mutation.

We report a family with dentinogenesis imperfecta III. The proband and her mother showed rapid attrition and opalescent discoloration of teeth. The primary teeth showed “shell teeth” radiographically. We performed WES and Sanger sequencing on them and revealed a novel variant (c.38C>A: p.A13E) in the signal peptide region of the DSPP gene.

A Chinese family with a KCNQ4 (c.701A>G; p.His234Arg) missense variation was identified. The hearing loss was characterized by postlingual deafness, with high-frequency hearing loss. This finding provides evidence for otolaryngologists to counsel patients, facilitating clinical decisions related to reproductive planning and childcare.

This study identified two GLI3 mutation sites c.3342dupC (p. A1115Rfs*14, unreported) and c.4431dupT (p. Glu1478Ter) from two families affected by polydactyly. The mutations may cause the polydactyly, providing new evidence for clinical diagnosis.

First report of a homozygous case of neurodevelopmental disorder associated with a novel PRPF8 variant. A family identified with a novel homozygous variant, PRPF8 c.257G>T, p.R86M diagnosed with NDDs.

Evaluation of variants, including introns, in combination with the genetic intolerance score, is expected to improve the diagnostic yield of WES for congenital anomalies.

We reported an elder parturient with a positive NIPS result but a negative prenatal diagnosis. Trio-WES was performed to identify a homozygous missense mutation in TBC1D2. Trio-WES data also revealed a maternal segmental UPD of chromosome 16 combined with a very low proportion of trisomy mosaicism (3%) in the fetus.