MedGen

A somatic mosaic condition caused by a postzygotic mutation (c.1234 C>T p.Leu412Phe) in the SMO gene. Two overlapping clinical syndromes associated with this variant in SMO have been reported; Curry-Jones Syndrome (MIM:601707) and Happle-Tinschert Syndrome. The syndrome is characterized by cutaneous and skeletal manifestations such as linear hypo- or hyperpigmented lesions, basaloid follicular hamartomas, palmoplantar pitting, atrophoderma, hypertrichosis, polydactyly or syndactyly, rib anomalies (rudimentary ribs), and limb-length anomalies. Craniofacial and dental abnormalities such as dysmorphic facies, macrocephaly, craniosynostosis, jaw tumors (ameloblastoma) have also been reported. Additional abnormalities impacting the gastrointestinal, cerebral, ophthalmic, and gonadal organs should also be considered. Some of these features include anal anomaly, colonic adenocarcinoma, severe constipation, myelofibrosis and smooth muscle hamartomas, malrotation, medulloblastoma, cerebral malformations, developmental delay, cataract, microphthalmia, coloboma, glaucoma, and cryptorchidism. [from MONDO]

A nucleotide substitution in the 5'' promoter region of the TERT gene at a position that is 146 nucleotides upstream of the translation start site where cytosine has been mutated to thymine. [from NCI]

A nucleotide substitution at position -211 in the upstream promoter region of the HBG2 gene where cytosine has been mutated to thymine. [from NCI]

A nucleotide substitution in the 5'' promoter region of the TERT gene at a position that is 124 nucleotides upstream of the translation start site where cytosine has been mutated to thymine. [from NCI]