Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic Ehlers-Danlos syndrome

Eur J Med Genet. 2021 Jun 20:104269. doi: 10.1016/j.ejmg.2021.104269. Online ahead of print.ABSTRACTThe kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by hyperextensible skin and joints, kyphoscoliosis, and severe muscle hypotonia at birth. Causal variants have been identified in PLOD1 resulting in lysyl hydroxylase deficiency responsible for kEDS. However, the detailed phenotype of kEDS during the perinatal period is still poorly recognized. Here, we describe a case of a female newborn presenting with prenatal hydrocephalus and severe hypotonia after birth with two novel compound heterozygous variants, c.2T > C(p.?) and c.1462del (p. Arg488Glyfs*9) in the PLOD1 gene. Our case suggests that in addition to the reported phenotype during the neonatal period, prenatal hydrocephalus should also be differentially diagnosed to exclude the potential of kEDS.PMID:34161861 | DOI:10.1016/j.ejmg.2021.104269

Source: European Journal of Medical Genetics - June 23, 2021 Category: Genetics & Stem Cells Authors: Yingchun Zhao Jingjing Sun Yihuan Chen Yong Hu Xiaohui Gong Li Ma Source Type: research