This website provides information on patients with mutations in the GJC2 gene, including clinical data, molecular data, management and research options.

Pelizaeus-Merzbacher-like disease type 1 (PMLD1) also designated as hypomyelinating leukodystrophy type 2 (HLD2) is caused by mutations in the GJC2 gene, also known as Cx47, HLD2, GJA12, SPG44, CX46.6, LMPH1C, LMPHM3, PMLDAR. PMLD1 is a rare genetic multisystem disorder with early onset characterized by hypomyelination, nystagmus, impaired psychomotor development, cerebellar signs and progressive spasticity.

Pathogenic variants in the GJC2 gene can also cause hereditary spastic paraplegia 44 (SPG44) with a milder PMLD1 phenotype and hereditary lymphedema type 1C (LMPH1C), with impaired lymph drainage due to distal hypoplasia of the lymphatic vessels and insufficiency of the great saphenous vein.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the GJC2 gene.

Simone Schröder, PhD, University Medical Center Göttingen, Dept. of Pediatrics and Adolescent Medicine, Göttingen, Germany, simone.schroeder@med.uni-goettingen.de
Jutta Gärtner, Univ. Prof., MD, University Medical Center Göttingen, Dept. of Pediatrics and Adolescent Medicine, Göttingen, Germany, gaertnj@med.uni-goettingen.de
Steffi Dreha-Kulaczewski, Priv.-Doz., MD, University Medical Center Göttingen, Dept. of Pediatrics and Adolescent Medicine, Göttingen, Germany, s.dreha@med.uni-goettingen.de