Clinical application of whole exome sequencing technology in small-for-gestational-age children.

AIM: To apply whole exome sequencing (WES) for molecular diagnosis of small-for-gestational-age (SGA) children.

METHODS

We retrospectively analyzed the data of 60 SGA children in our hospital, and performed developmental assessment, laboratory tests, imaging tests, and whole exome sequencing (WES), which were combined with clinical phenotypes to clarify the pathogenicity of the variant genes in the children.

RESULTS

Sixty SGA children were tested, and pathogenic SGA was detected at relatively high frequencies on chromosomes 7, 8, and 22. Of these, karyotype analysis clearly suggested developmental disorders in 4 patients. Also, a case of Wiedemann-Steiner syndrome due to a de novo nonsense variant in the KMT2A gene was detected.

CONCLUSIONS

The use of WES testing technology to increase the diagnosis rate of children with special SGA is conducive to the correct diagnosis and treatment of such children.