Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Marion Rolland (1) , Christèle Dubourg (1, 2) , Auriane Cospain (1) , Catherine Droitcourt (3, 4, 1) , Laurent Pasquier (1)

1 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
2 IGDR - Institut de Génétique et Développement de Rennes
3 Irset - Institut de recherche en santé, environnement et travail
4 EHESP - École des Hautes Études en Santé Publique [EHESP]

Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to PIGL gene mutations. Here, we report a patient who showed an initial delay in psychomotor development and skin abnormalities consistent with CHIME syndrome but with atypical clinical features and laboratory findings. In line with our clinical suspicion, the c.500T>C, p.(Leu167Pro) variant (found in all the previously described cases of CHIME syndrome) was found on the paternal allele. A novel “likely pathogenic” PIGL missense variant (c.154G>A, p.(Asp52Asn)) was detected on the maternal allele. This case provides new insights into the clinical spectrum of CHIME syndrome and highlights the potential for phenotypic/genotypic variations.

Mots clés: PIGL; CHIME syndrome; case report; neuroectodermal disorder

Domaines: Sciences du Vivant [q-bio]; Génétique

Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier. Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report. Pediatric Dermatology, 2022, 39 (3), pp.434-437. ⟨10.1111/pde.14969⟩. ⟨hal-03610866⟩