Case report: A heterozygous mutation in leads to growth hormone deficiency.

Weiss-Kruszka syndrome (WSKA) is a rare disease most often caused by mutations in the gene. To screen for hereditary diseases, exons from the patient's genome were sequenced. Genomic PCR experiments followed by Sanger sequencing were used to confirm the mutated genomic regions in the patient and his parents. We report a new mutation site, a heterozygous mutation (NM_021224.6:c.6311dup) in in a male patient of 8 years old. The mutation in the gene caused WSKA. This patient is the first case with WSKA characterized by attention-deficit hyperactivity disorder and complete growth hormone deficiency without pituitary lesions. Our results suggest that the heterozygous mutation in is the direct cause of WSKA in this patient. Mutations in other genes interacting with result in similar symptoms of WSKA. Furthermore, and its interacting proteins ASXL2 and VPS13B may form a protein complex that is important for normal development but awaits more studies to reveal its detailed functions.