Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.

Sinem Yalcintepe, Hakan Gurkan

Clinical dysmorphology 2021 Jan

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Pathogenic variations in the SLC9A6 gene are associated with an X-linked disorder Christianson syndrome characterized by developmental delay, microcephaly, intellectual disability, autistic-like behavior and epilepsy. We identified a novel pathogenic variation in the SLC9A6 gene in a boy with developmental delay and microcephaly. Herein we report the clinical findings of the case diagnosed as Christianson syndrome; his mother was found to carry the same variant.

Citation

Sinem Yalcintepe, Hakan Gurkan. Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome. Clinical dysmorphology. 2021 Jan;30(1):36-38