Naegeli Syndrome Flashcards
1
Q
What are the symptoms of Naegeli syndrome?
A
Absent fingerprints Thickening of palms and soles Decreased sweating Heat intolerance Hyperpigmented skin patches Brittle nails Abnormal tooth color and early tooth loss
2
Q
What gene is involved in Naegeli syndrome?
A
KRT14 gene on chromosome 17
Frameshift or nonsense mutation = early termination of protein translation
3
Q
What is the inheritance pattern of Naegeli syndrome?
A
Autosomal dominant
4
Q
What is the phenotype of the heterozygous in Naegeli syndrome?
A
They will express the symptoms of this syndrome
