NYMC Faculty Publications
Cutis Laxa, Fat Pads and Retinopathy Due to ALDH18A1 Mutation and Review of the Literature
Author Type(s)
Faculty
DOI
10.1016/j.ejpn.2014.01.003
Journal Title
European Journal of Paediatric Neurology
First Page
511
Last Page
515
Document Type
Article
Publication Date
7-1-2014
Department
Pediatrics
Keywords
Adipose Tissue, Aldehyde Dehydrogenase, Aldehyde Dehydrogenase 1 Family, Child, Preschool, Cutis Laxa, Humans, Male, Mutation, Retinal Dehydrogenase, Retinal Diseases
Disciplines
Medicine and Health Sciences
Abstract
Autosomal recessive cutis laxa (ARCL) is a connective tissue disorder characterized by wrinkled, inelastic skin, frequently associated with a neurologic involvement and multisystem disease. Next generation sequencing was performed in genetically unsolved patients with progeroid features, neurological and eye involvement to assess the underlying etiology. We describe an 6 month old child, diagnosed with a novel, homozygous nonsense mutation c.2339T>C in exon 18 of the ALDH18A1 gene, and reviewed all reported P5CS patients. So far 10 patients were described with mutations in ALDH18A1. Features of our patient that have been described in literature included cutis laxa on hands and feet, visible veins on thorax and abdomen, joint laxity, failure to thrive, short stature, microcephaly, and severe developmental and speech delay. Furthermore, abnormal fat distribution, retinal abnormalities, undescended testis, and retinitis pigmentosa have never been described in ALDH18A1. Some features described as unique in ALDH18A1 have been observed in PYCR1 patients, thus suggesting that the phenotypic overlap is higher than previously shown. In conclusion, the clinical phenotype caused by ALDH18A1 mutations is diverse, with variable degree of progeria in children, but always in association with neurologic disease. We suggest genetic testing for possible ALDH18A1 mutations in all patients with progeroid features, like wrinkled or parchment-like skin, abnormal growth, especially with central nervous system involvement and microcephaly.
Recommended Citation
Wolthuis, D. F., van Asbeck, E., Mohamed, M., Gardeitchik, T., Lim-Melia, E. R., Wevers, R. A., & Morava, E. (2014). Cutis Laxa, Fat Pads and Retinopathy Due to ALDH18A1 Mutation and Review of the Literature. European Journal of Paediatric Neurology, 18 (4), 511-515. https://doi.org/10.1016/j.ejpn.2014.01.003
