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J Hum Genet. 2017 Jun;62(6):661-663. doi: 10.1038/jhg.2017.18. Epub 2017 Feb 23.

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

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Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada.


De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138. We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families.

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