Spondylo-epi-metaphyseal dysplasia with brain malformation: a milder form of GPX4 gene related Sedaghatian skeletal dysplasia

We were referred a male child aged 4 years 9 months with intellectual disability due to microcephaly and brain malformation and severe short stature. After exome sequencing, he was found to be homozygous for a likely pathogenic missense mutation R179H in the GPX4 gene. Sedaghatian skeletal dysplasia (SSD) (MIM250220) was described as a neonatal lethal disease with short limbs, platyspondyly, cardiac conduction defects and central nervous system abnormalities. Amorph mutations in the GPX4 gene have been identified in the severe lethal phenotype. The R179H mutation, a putative hypomorph has also been reported in other two living children of Indian origin with diagnosis of Sedaghatian skeletal dysplasia in India. The patient was thus diagnosed to have a variant form of Sedaghatian skeletal dysplasia.