Severe microcephalyGene: SASS6
PMID:24951542 (Khan et al., 2014) examined three affected individuals from a consanguineous MCPH family from Pakistan and identified a homozygous c.185T>C missense mutation in the SASS6 gene, resulting in a p.Ile62Thr substitution. The Ile62Thr mutant of SASS6 is substantially less efficient than the wild-type protein in sustaining centriole formation.
13 Dec 2016, 10:55 a.m.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
SASS6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
SASS6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
SASS6 was created by rfoulger