Lethal Congenital Contracture Syndrome type 7 (LCCS7) and Congenital Hypomyelinating Neuropathy type 3 (CHN3) are rare autosomal recessive diseases, related to pathogenic variants in the CNTNAP1 (Contactin Associated Protein 1) gene.
CNTNAP1 involvement in human diseases was first described by Laquérriere in 2014. To this day, most of the 32 identified patients, issued from 21 families, were males and answered to diverse ethnicities (Palestinian, Irish, English, American, Qatari, Lebanese and French).
CNTNAP1