Nivelon-Nivelon-Mabille syndrome

Definition:

Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia. It has been reported that mutations in the hedgehog acyl-transferase gene (HHAT) cause NNMS.

References:

[1]. Ghada M H Abdel-Salam, et al. Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. Am J Med Genet A. 2019 Jun;179(6):1053-1057. [Content Brief]

[2]. Patrick Callier, et al. Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. PLoS Genet. 2014 May 1;10(5):e1004340. [Content Brief]

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