ABCMdb

ABCC8 p.Ala478Val

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Publications

PMID: 22608503 [PubMed] van Bon BW et al: "Cantu syndrome is caused by mutations in ABCC9."

No. Sentence Comment

19 Phenotype of Individuals with Cantu &#b4; Syndrome Clinical Features Affected Individuals 1 2a 2b 2c 3 4 5 6 7 8a 8b 9a 9b 10 Gender M F F F M F M F M F M M F M Mutation (cDNA) 3460C>T 3461G>A 3461G>A 3461G>A 3461G>A 3460C>T 3460C>T 3128G>A 3461G>T 1433C>T 1433C>T - - - Alteration (protein) Arg1154Trp Arg1154Gln Arg1154Gln Arg1154Gln Arg1154Gln Arg1154Trp Arg1154Trp Cys1043Tyr Arg1154Gln Ala478Val Ala478Val - - - Inherited de novo inherited inherited de novo de novo de novo de novo de novo inherited Consanguinity &#fe; - - - - - &#fe; - - - &#fe; &#fe; &#fe; - Age at evaluation 4 m 16 yrs 10 yrs 39 yrs 8 yrs 21 yrs 3.5 m 4.5 yrs 9.8 yrs 4 m 32 yrs 6 yrs 4 yrs 3 m Alive - &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; - &#fe; Congenital hypertrichosis &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; Macrosomia at birth &#fe; - &#fe; &#fe; - &#fe; - &#fe; - &#fe; &#fe; - - &#fe; Macrocephaly &#fe; &#fe; &#fe; &#fe; &#fe; - &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; ID* and/or developmental delay - - - - &#fe; - &#fe; - - &#fe; - &#fe; &#fe; &#fe; Facial Features Coarse face &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; Epicanthal folds &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; - Abundant and/or curly eyelashes &#fe; &#fe; &#fe; - &#fe; - &#fe; &#fe; &#fe; &#fe; - &#fe; &#fe; &#fe; Broad and/or flat nasal bridge &#fe; &#fe; &#fe; &#fe; &#fe; - &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; Small nose and/or anteverted nostrils &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; - - - &#fe; Prominent mouth and/or thick lips &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; Long philtrum &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; &#fe; High and/or narrow palate &#fe; &#fe; &#fe; &#fe; - &#fe; &#fe; - - - &#fe; &#fe; &#fe; - Macroglossy &#fe; &#fe; &#fe; &#fe; - &#fe; &#fe; - - - &#fe; - - - Anterior open bite - &#fe; &#fe; - - &#fe; - - - - - - - Gingival hyperplasia &#fe; &#fe; &#fe; &#fe; - &#fe; &#fe; - - &#fe; - - - - Short neck - - - &#fe; &#fe; - &#fe; &#fe; &#fe; - - &#fe; &#fe; &#fe; (Continued on next page) Table 1. Login to comment