Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

Abstract

Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (CHST14) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the CHST14 gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder.

Keywords: developmental paediatrocs; genetics; musculoskeletal and joint disorders.

Figure 1

(A) Characteristic facial features of the index case with MC-EDS. Note synophrys, hypertelorism, down slanting palpebral fissures, low set ears, thin upper lip and prominent nasolabial folds. (B) Hands of child showing tapering fingers with bilaterally thin and adducted thumbs. (C) Feet showing bilateral talipes equinovarus deformity. MC-EDS, musculocontractural type of Ehlers-Danlos syndrome.

Figure 2

Photographs of the affected child taken at (A) 3 months, (B) 1 year, (C) 2 years.

Figure 3

Bidirectional Sanger sequence of (A) proband showing homozygous non-sense mutation NM_130468.3:c.797dupA (p.Tyr266*) (B) parents showing the heterozygous carrier status.