* Inheritance Pattern * This syndrome is characterized by autosomal dominant inheritance with paternal imprinting. * Gene Involved * KCNK9 gene on chromosome 8 * Type of mutation * Missense mutation in the maternal copy of the KCNK9 gene * Location on Chromosome * 8q24.3 --> 8th chromosome, long arm, band 24, sub-band 3 * Effect on Gene Product * The mutation causes a complete loss of the current in the potassium channel. * Spectrum of disease caused by genetics * All of the individuals have a missense mutation but the location of the missense mutation determines the severity of the syndrome because some locations may be more detrimental to amino acid and proteins compared to others.
Birk-Barel syndrome
Halperin-Birk syndrome
Hurler syndrome
Hecht Scott syndrome
Kindler syndrome
Smith Martin Dodd syndrome
Baboon syndrome
Pelger–Huët anomaly