Gene/phenotype/disorder under study
SEC23A (OMIM *610511) / craniolenticulosutural dysplasia (CLSD) (OMIM #607812)
Abstract
Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, frontal bossing, macrocephaly, hypertelorism, a broad prominent nose, and short stature. In addition, several patients had an ocular phenotype of Y-shaped sutural cataracts, “double-ring” sign in the eyes and/or optic nerve hypoplasia. Craniolenticulosutural dysplasia is caused by bi-allelic or monoallelic variants in the SEC23A gene. Autosomal recessive inheritance (AR-CLSD) has been documented in several cases with homozygous or compound heterozygous variants in SEC23A, whereas autosomal dominant inheritance (AD-CLSD) involving heterozygous variants has been reported just in five patients. CLSD in the families with autosomal dominant inheritance has a clinically milder expression than that observed in the families with biallelic variants. The aim of this call is to expand the knowledge on this syndrome, define the clinical variability and its natural history, more accurately profile the variability of the dominant and recessive forms, with the aim to establish a specific management for the affected individuals, clarify a possible genotype-phenotype association and drive further studies in order to better define the pathogenic basis of the disease.
Coordinating clinicians
Dr. Francesca Peluso – francesca.peluso@ausl.re.it
Dr. Livia Garavelli – livia.garavelli@ausl.re.it
Institution
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
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