Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant

Targeted gene(s)/phenotype under study :

  • CLCN7 – without osteopetrosis

Abstract :

Individuals with loss-of-function CLCN7 variants in known to develop autosomal recessive or autosomal dominant osteopetrosis. Recently Nicoli et al, however, described two children with the identical pathogenic de novo variant in CLCN7 showing cutanous albinism, delayed myelination and development, organomegaly, enteropathy and hypopigmentation, but no osteopetrosis. Whole-exome and -genome sequencing revealed a de novo c.2144A>G variant in CLCN7 in both affected children.

We now have an additional case of an adult patient with a similar phenotype and a de novo CLCN7 variant. To further confirm the phenotype of this new syndrome we welcome additional cases.

Coordinating clinician/researcher: Lilian Bomme Ousager

Institution :

Department of Clinical Genetics

Odense University Hospital

Odense, Denmark

Contact :

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples : N
  • Resampling of patients : N
  • Linked to a translational/basic research project?