Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family: A case report.

BACKGROUND

Floating-harbor syndrome (FHS) is a rare genetic disorder caused by pathogenic variants in the SRCAP gene. Most individuals with FHS have short stature, delayed speech and language development, and dysmorphic facial features. However, the patients with FHS are not easy to diagnose due to the overlap of clinical phenotypes with other disorders.

CASE SUMMARY: We reported a 10-year-old boy who presented with severe short stature, developmental delay and distinctive facial features. Exome sequencing was provided for the proband and his parents. We identified a novel frameshift variant c.7235delinsGT (p.Thr2412fs) in SRCAP gene, and the variant was further validated by Sanger sequencing. The mother of the proband was referred to us for prenatal consultation during next pregnancy. We performed prenatal genetic diagnosis for the fetus. The result of Sanger sequencing for c.7235delinsGT (p.Thr2412fs) in SRCAP gene showed that the fetus did not carry the variant, so the fetus has been born successfully. The newborn does not show any similar symptom to the proband till one month.

CONCLUSION

This case confirms that the c.7235delinsGT (p.Thr2412fs) variant in the SRCAP gene is associated with FHS and expands the spectrum of SRCAP variants.