Targeted genes under study:
PTPN11 OMIM* 176876
We recently saw a boy with what we believe is PTPN11-related SHORT syndrome (first described by Ranza et. al 2020 PMID: 32233106). He is manifesting some novel features and we were wondering whether you would be interested in contributing the geno-clinical findings of similar patients known to you for a clinical review/publication.
The patient should be heterozygous for a variant in PTPN11 and have features suggestive of SHORT syndrome, for instance mild intrauterine growth restriction (IUGR), mild to moderate symmetrical short stature, partial lipodystrophy, and a typical facial gestalt (triangular face, deep-set eyes, prominent forehead, thin nasal features). (Please see PMID: 32233106 for more information on the associated phenotype).
This call is a part of the project “The post-exome clinic: improving the impact of exome sequencing for developmental disorders in Norway“, and is approved by the appropriate ethics committee. The ERN-ITHACA network constitutes a vital part of this project.
Andreas Benneche – email@example.com
Dept. Of Medical Genetics, Haukeland University Hospital, Bergen, Norway
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No