Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

European Journal of Human Genetics : EJHG
Solveig SchulzKarim Kentouche

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.

References

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Citations

Jan 25, 2020·Cancer Science·Yasutaka YamadaNaohiko Seki
Jul 20, 2019·European Journal of Human Genetics : EJHG·Magdalena DanyelMartin A Mensah
Oct 13, 2020·Trends in Genetics : TIG·Roberto Bellelli, Simon J Boulton

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Methods Mentioned

BETA
RNA-seq

Software Mentioned

DONSON
phyloP
GeneTalk
MutationTaster

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