SNP Shot: Genomic Insights

Microcephaly, seizures, and developmental delay (MCSZ) is a disorder marked by an unusually small head (microcephaly) alongside neurological issues stemming from disrupted brain development during pregnancy. Those affected usually experience repeated seizures (epilepsy) that begin in early childhood and exhibit delays in motor development, like sitting and walking. Speech development is also slow, and some individuals may never develop the ability to speak. Intellectual disability and behavioral difficulties, mainly hyperactivity, are frequently observed in MCSZ. In rare instances, individuals with MCSZ may also present with impaired balance and coordination (ataxia).

Inheritance:

MCSZ follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must contain mutations for the condition to manifest. The parents of a child with an autosomal recessive disorder each carry one copy of the altered gene, but generally do not display any signs or symptoms of the condition themselves.