PMC5870921_01
Patient phenotype.. Notes: (A) Coarse facial features, AFA, low anterior hairline, synophrys, long eyelashes, epicanthic folds, broad lips, bulbous nose, and broad mouth. Phenotypic similarities with CS. (B) Generalized hypertrichosis predominantly on back and extremities.. Abbreviations: AFA, acromegaloid-like appearance; CS, Cantu syndrome.
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Physical examination revealed generalized hypertrichosis mainly on the face, limbs, back region, and genitals (Figure 1).
ABCC9 protein structure and Sanger sequencing results.. Notes: (A) ABCC9 protein structure: mutation is located on TMD2 domain. Mutations at this point result in gain of function in the KATP channel resulting in the opening of the potassium channel. The arrow indicates the novel variant that was present in the patient. (B) Sanger sequencing results: The box frames the affected codon and the arrow indicates the heterozygous state of the identified variant.. Abbreviation: TMD, transmembrane domain.
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Aggregation Consortium (ExAc). A novel missense, likely pathogenic variant in heterozygous state in ABCC9 (NM_005691.3) was identified: c.3625T>C (p.Tyr1209Hys) (Figure 2). This variant has not been previously reported in the literature, and the finding was confirmed by Sanger sequencing (Figure 2) and was compatible with the diagnosis of CS. Protein localization of the change is in the transmembrane domain 2 of ABCC9 (Figure 2).