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Updated: Feb 10, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two
Solveig Schulz1, Martin A Mensah2,3, Heike de Vries4
1Center of Human Genetics, Jena University Hospital, Jena, Germany. Solveig.Schulz@zam.uniklinikum-jena.de.
Abstract:
Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia. This occurred because the present cases exhibited clinical findings in addition to those of the microcephalic primordial dwarfism disorder, including severe limb malformations. These findings suggest that the DONSON and Fanconi anemia proteins could have supplementary roles in developmental processes as they have in the maintenance of genomic integrity, resulting in related disease phenotypes.
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