This report describes microcephaly, short stature, and limb abnormalities (MISSLA); MISSLA exhibits autosomal recessive inheritance. The human gene implicated in this disease is DONSON, which encodes a replisome component that maintains genome stability by protecting stalled or damaged replication forks. Work done in flies addressing this and related diseases can be found in the human disease model report 'microcephalic dwarfism syndromes, DONSON-related' (FBhh0000902).
[updated Oct. 2018 by FlyBase; FBrf0222196]
[MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA](https://omim.org/entry/617604)
[DOWNSTREAM NEIGHBOR OF SON; DONSON](https://omim.org/entry/611428)
MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017; pubmed:28191891). [from MIM:617604; 2018.10.01]
Microcephaly, short stature, and limb abnormalities (MISSLA) is caused by homozygous or compound heterozygous mutation in the DONSON gene. [from MIM:617604; 2018.10.01]
The DONSON gene encodes a component of the replisome that ensures replication fork stability and promotes efficient activation of cell cycle checkpoints after induction of endogenous replication stress (summary by Reynolds et al., 2017; pubmed:28191891). [from MIM:611428; 2018.10.01]
One to one: 1 human to 1 Drosophila.
