Key result
A homozygous deletion (c. 1114-1116del) in exon 8 of the CRPPA gene causes a mild dystroglycanopathy form of congenital muscular dystrophy.
Identifies a specific homozygous deletion in the CRPPA gene as a cause of mild dystroglycanopathy in a Chinese family.
Hypothesis-generating in one family; extends CRPPA variant spectrum but should not yet change practice.
BACKGROUND: gene (encoding CDPLribitol pyrophosphorylase A) are recognized as causative factors of dystroglycanopathies, a subtype of CMD with defects in glycosylation. CASE SUMMARY: 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: mutations.
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Yang et al. (2021) studied this question. A homozygous deletion (c. 1114-1116del) in exon 8 of the CRPPA gene causes a mild dystroglycanopathy form of congenital muscular dystrophy.
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