Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

• Published in: Journal of Korean medical science Vol. 35; no. 10; p. e96
• Main Authors: Shin, Young Lim, Park, You Na, Jang, Mi Ae
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Academy of Medical Sciences 16.03.2020; 대한의학회
• Subjects: Case Report; Ehlers-Danlos Syndrome - diagnosis; Ehlers-Danlos Syndrome - genetics; High-Throughput Nucleotide Sequencing; Humans; Mutation; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - genetics; Republic of Korea; Siblings; 의학일반; Republic of Korea; Joint Laxity; Hypotonia; Scoliosis; Ehlers-Danlos Syndrome
• ISSN: 1011-8934; 1598-6357
• DOI: 10.3346/jkms.2020.35.e96

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl hydroxylase 1 due to mutations in the gene . We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases.