Study on Genotypes and Phenotypes of Pediatric Clinical Rare Diseases

Dear Colleagues,

With the arrival and widespread adoption of high-throughput DNA sequencing, genetic discoveries in neurodevelopmental disorders (NDDs) and genetic syndromes are advancing very quickly. The identification of novel genes and of rare, highly penetrant pathogenic variants is helping to enhance our understanding of genotype–phenotype correlations.  While most dominant NDD genes are highly intolerant to variation, some exceptions are connected to the presence of variants in transcripts that are not brain expressed and/or genes that demonstrate acquired somatic mosaicism in blood. A large number of NDD genes have been identified in cases where varying phenotypes depend on the type of inheritance (for example, dominant or recessive), the nature (for example missense or truncating) or location of the mutation.

The study of the genotype–phenotype correlation is not simple in recently-described genetic syndromes, with limited numbers of clinical cases, but it is very important for the clinician, who has to interpret the genetic results and organize the follow-up for children with genetic syndromes.

This is the reason why we believe it is important to prepare a Topical Collection with the title “Study on Genotypes and Phenotypes of Pediatric Clinical Rare Diseases”.

It would be an honour for us if you agreed to be one of the authors of this initiative. We would be happy to accept your suggestion for a title on a subject in which you are an expert.

Dr. Livia Garavelli
Dr. Stefano Giuseppe Caraffi
Collection Editors

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