Study of Seizure-Manifested Hartnup Disorder Case Induced by Novel Mutations in SLC6A19

AimThe aim of the study is to investigate a variation in the gene SLC6A19 in a female patient with Hartnup disorder manifested only by seizure.MethodsDNA samples collected from the patient and her parents were analyzed and twelve exons of the SLC6A19 gene were amplified and sequenced.ResultsWe found c.47C>T and c.1522G>A mutations in the gene SLC6A19 belonging to the patient, which are missense mutations inherited from her parents. The c.47C>T mutation is from her father and c.1522G>A is inherited from her mother. The parents are both heterozygous healthy carriers.ConclusionTwo novel mutations of the SLC6A19 gene are revealed in the female patient with Hartnup disorder, exhibiting no typical dermatologic problems, but having dramatic neurological symptoms.

Photosensitivity

Chapter 13 covers Bloom Syndrome, Hartnup Disorder, Kindler Syndrome, Polymorphous Light Eruption, Rothmund-Thomson Syndrome, and Xeroderma Pigmentosum. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Photosensitivity

Bloom Syndrome – Hartnup Disorder – Kindler Syndrome – Polymorphous Light Eruption – Rothmund-Thomson Syndrome – Xeroderma Pigmentosum