Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report

摘要

BACKGROUND Congenital muscular dystrophy(CMD)is a clinically and genetically heterogeneous group of inherited muscle disorders.Mutations in the CRPPA gene(encoding CDPLribitol pyrophosphorylase A)are recognized as causative factors of dystroglycanopathies,a subtype of CMD with defects in glycosylation.CASE SUMMARY The present study examined a Chinese family,whose proband presented mainly with muscle weakness in both lower limbs but without brain and eye symptoms.In this family,a homozygous deletion,c.1114-1116del(p.V372del),was identified in exon 8 of CRPPA in the proband,while a heterozygous deletion was identified in the proband’s father and mother,who lacked symptoms.A mild dystroglycanopathy of CMD was diagnosed.CONCLUSION The findings of this study expanded the clinical and mutational spectrum of patients with CMD associated with CRPPA mutations.