Title |
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings
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Published in |
European Journal of Human Genetics, May 2018
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DOI | 10.1038/s41431-018-0128-0 |
Pubmed ID | |
Authors |
Solveig Schulz, Martin A. Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike, Uwe Schneider, Stephan Borte, Detlev Schindler, Karim 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Switzerland | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 27 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 5 | 19% |
Other | 3 | 11% |
Lecturer | 2 | 7% |
Student > Doctoral Student | 2 | 7% |
Student > Bachelor | 2 | 7% |
Other | 4 | 15% |
Unknown | 9 | 33% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 9 | 33% |
Medicine and Dentistry | 6 | 22% |
Chemistry | 1 | 4% |
Unspecified | 1 | 4% |
Unknown | 10 | 37% |