Meier-Gorlin syndrome
By R. Belaid, Hsan Zouaoui, M. Yazidi, I. Oueslati, Wafa Grira, F. Chaker, M. Chihaoui. 2018
Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.
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Citations in the corpus
- In silico protein interaction screening uncovers DONSON’s role in replication initiation (2023, neutral): “6D”
- Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation (2023, unknown): “Interestingly, most of the underlying genes of Meier– Gorlin syndrome are categorized as initiation factors for DNA replication, such as ORC1, ORC4, ORC6, CDT1, CDC6, GMININ, CDC45, and MCM5 (de Munnik et al, 2015; Knapp et al, 2020).”
- The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome (2023, background): “Additional features are variably present between individuals (Table 1), with the exception of mammary hypoplasia which is completely penetrant in post-pubescent females [2].”
- Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome (2017, background): “protein sequence (Cartegni et al. 2002; Lopez-Bigas et al. 2005; Lewandowska 2013), effects that cannot be detected by DNA sequencing alone.”