Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

• Published in: American Journal of Medical Genetics Part A
• Main Authors: Lacassie, Yves, Johnson, Britt, Lay-Son, Guillermo, Quintana, Rita, King, Andrew, Cortés, Fanny, Álvarez, Cecilia, Gómez, Ricardo, Vargas, Alfonso, Chalew, Stuart, King, Alejandra, Guardia, Sylvia, Sorensen, Ricardo U., Aradhya, Swaroop
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 2020
• Subjects: Combined immunodeficiency; Diabetes mellitus; Dwarfism and osteolysis; Long survival; Novel NBAS variant; SOPH syndrome; Acute liver-failure; Amplified sequence gene; Deficiency; Onset; Bone; Huet; Maksimova; Yakuts
• Online Access: https://doi.org/10.1002/ajmg.a.61597; https://repositorio.uchile.cl/handle/2250/175417

Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy...