The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome - s41431-023-01359-z.pdf

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• and breast agenesis in females

• The canonical role of all proteins associated with MGORS are involved in different stages of DNA replication

• Meier-Gorlin syndrome (MGORS) is a rare form of microcephalic primordial dwarfism (MPD) with less than 100 cases reported in the literature

• MPD is an umbrella term for a group of rare disorders defined by global growth restriction including micro- cephaly

• Generally, these disorders are inherited in an autosomal recessive manner

• Associated genes encode proteins involved in processes required for timely cell cycle progression such as cell cycle checkpoint, centrosome duplication and coordination, DNA replication, and DNA repair

• reduced cellular proliferation

• The molecular pathophysiology suggests reduced cellular proliferation (or increased apoptosis) during development ultimately underlies the restricted growth [1].

• with the exception of mammary hypoplasia which is completely penetrant in post-pubescent females [2].

• disruption to DNA replication