A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report.
BMC Med Genomics
; 14(1): 201, 2021 08 11.
Article
em En
| MEDLINE
| ID: mdl-34380476
ABSTRACT
BACKGROUND:
Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal dominant disease, whereas some rare cases with autosomal recessive inheritance of mode have also been identified. CASE PRESENTATION The patient was a 5-year-old male with a short neck, flat face, epiphyseal dysplasia, irregular vertebral endplates, and osteochondritis. Sequencing result indicated NM_001844.4 c.3662C > T; p. (Ser1221Phe) a novel missense variant, leading to a serine-to-phenylalanine substitution. Sanger sequencing confirmed the variant compared to his parents and brother.CONCLUSIONS:
We identified a novel homozygous variant of the COL2A1 gene as the cause of type II collagenopathies in a Chinese male, enriching the spectrum of genotypes. This is the first case of type II collagenopathies inherited in an autosomal recessive manner in China and East Asia, and it is the first case that resulted from serine substitution in the world.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article