2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Expanding the Phenotype of DREAM-PL: A Case Report

Pdf Summary

The document discusses a rare congenital syndrome called DREAM-PL, associated with variants in the CTU2 gene. The syndrome is characterized by dysmorphic facies, renal agenesis, ambiguous genitalia in males, microcephaly, polydactyly, and lissencephaly. The syndrome shows clinical variability and allelic heterogeneity, suggesting the involvement of other genes. The document presents a case of a four-year-old female with several features of DREAM-PL syndrome but lacking some key characteristics. Genetic testing revealed variants of uncertain significance in the CTU2 gene and other genes associated with primary ciliary dyskinesia. The document highlights the need for genetic testing in diagnosing DREAM-PL syndrome due to its small sample size and phenotypic variability. It also discusses inconsistencies between the observed phenotypes and the acronym DREAM-PL, suggesting the need for a more appropriate designation for patients with CTU2 gene variants. The document concludes with a call for further research and discussion on the naming of new and complex genetic disorders.

Asset Subtitle

Presenting Author - Daniel T. Mahoney, Jr., BE/BS, MCTM; Co-Author - Jennifer Black, MS, CGC; Co-Author - Nienke Dosa, MD, MPH; Co-Author - Ai Sakonju, MD; Co-Author - Robert Roger Lebel, MD, FACMG;

Meta Tag

Delineation of Diseases

Genotype-Phenotype Correlations

Intellectual disability

Phenotype

Phenotypic delineation of disorders

Co-Author Jennifer Black, MS, CGC

Co-Author Nienke Dosa, MD, MPH

Co-Author Ai Sakonju, MD

Co-Author Robert Roger Lebel, MD, FACMG

Presenting Author Daniel T. Mahoney, Jr., BE/BS, MCTM

Keywords

DREAM-PL syndrome

CTU2 gene variants

congenital syndrome

dysmorphic facies

renal agenesis

ambiguous genitalia

microcephaly

polydactyly

lissencephaly

allelic heterogeneity