A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report,BMC Medical Genomics

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A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
BMC Medical Genomics ( IF 2.1 ) Pub Date : 2021-08-11 , DOI: 10.1186/s12920-021-01048-0
Qianwen Zhang _{1,

2} , Ruen Yao ₃ , Qun Li ₁ , Xin Li ₁ , Biyun Feng ₁ , Guoying Chang ₁ , Jian Wang ₃ , Xiumin Wang _{1,

2}

Affiliation

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. 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. 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.

更新日期：2021-08-12

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