Bachmann-Bupp syndrome (BABS), also known as neurodevelopmental disorder with alopecia and brain abnormalities (NEDABA) is a neurometabolic disorder associated with global developmental delay, ectodermal abnormalities including alopecia, macrocephaly, dysmorphic features, and characteristic neuroimaging findings. It has been reported that gain-of-function mutations in ODC1 gene cause this syndrome. ODC1 encodes ornithine decarboxylase 1, the rate-limiting enzyme in endogenous polyamine synthesis.
Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT
タイトル
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
