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J Coll Physicians Surg Pak · Feb 2022
Case ReportsKleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.
- Huma Arshad Cheema, Nadia Waheed, and Anjum Saeed.
- Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore, Pakistan.
- J Coll Physicians Surg Pak. 2022 Feb 1; 32 (2): 236-238.
AbstractKleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypotonia, developmental delay, and intellectual disability. It is a rare syndrome; and less than 100 cases with different genetic mutations are reported so far. We report an eight-month baby boy with Kleefstra syndrome type 2 due to a novel de novo pathogenic mutation in the KMT2C (Lysine methyltransferase 2C) gene. Key Words: Kleefstra syndrome, KMT2C gene, Neurodevelopmental disorder, Deafness.
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