Ann Pediatr Endocrinol Metab.  2024 Apr;29(2):135-137. 10.6065/apem.2346150.075.

A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea

• Jeon J
• Kim M
• Yoo S
• Kim Y
• Cheon CK

• KMID: 2554685
• DOI: http://doi.org/10.6065/apem.2346150.075

Figure

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  Fig. 1. Appearance of the patient at the initial visit. He had a dysmorphic appearance including hypertelorism, right ptosis, midface hypoplasia, long philtrum, low-set and rotated ear, anteverted nares, webbed neck, micrognathia, and triangular facial shape. His bilateral wrist joints were flexed inward.

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  Fig. 2. Whole exome sequencing found 2 heterozygous variants in the COL11A1 gene (NM_080629.3). Sequence analysis of the COL11A1 gene revealed compound heterozygous variants, c.3478C>G (p.Pro1160Ala) on exon 45 and c.2771C>T (p.Pro924Leu) on exon 35. Alignment of the predicted amino acid sequence of COL11A1 genes among different species, which is shown in the dotted red box. Sequences were aligned with blastp (https://blast.ncbi.nlm.nih.gov/).

Reference

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