Gene/phenotype/disorder under study
12p11 deletion including DNM1L (OMIM 603850 ) and PTHLH (OMIM 168470)
Abstract
Interstitial deletions of the short arm of chromosome 12 are rare, with less than forty patients being reported to date. In the past, according to the region of the deletion, they have been divided into four groups: 1) deletions from p1→p11; 2) deletions from p13→p11; 3) deletions in band 12p13 and 4) deletions extending to the terminal of 12p (Group 2 and 4 now possibly being remodulated as unique category). Common phenotypic findings associated with interstitial 12p deletions usually include mental retardation, developmental delay, brachydactyly and clinodactyly, microcephaly and/or craniofacial anomalies Nevertheless, the spectrum of phenotypic features associated with the syndrome remains uncertain, and little is known about the genes that may be correlated to a clear genotype- phenotype correlation.
In order to define a common recurrent deleted region and to identify the possible involved genes associated with neurodevelopmental disorders, we’re looking for patients carrying heterozygous de novo 12p interstitial deletions, spanning mainly from 12p12.1 to 12p11.22. Also deletions including 12p11.21p11.1 will be considered. All clinical data and genetic findings will be kindly collected by Authors using this Excel table.
Coordinating clinicians
Filippo Maria Santorelli, Stefano Pagano – genetica@fsm.unipi.it
Institution
Neurogenetics, IRCCS Stella Maris, Pisa
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