title: Giant axonal neuropathy diagnosed on skin biopsy.
abstract: Evaluation of hereditary axonal neuropathy in childhood is complex. Often, the child has to be subjected to general anaesthesia for a nerve biopsy to guide further genetic testing, which may or may not be readily available. We describe a toddler with clinical features suggesting giant axonal neuropathy (GAN), whose diagnosis was confirmed by minimally invasive skin biopsy and corroborated by the finding of compound heterozygous mutations involving the GAN gene, including a novel interstitial microdeletion at 16q23.2 detected by microarray and a point mutation detected by direct sequencing.
authors.affiliation: Department of Neurosciences, Royal Children's Hospital, Herston, QLD, Australia; School of Medicine, University of Queensland, Herston Campus, Herston, QLD, Australia.
authors.forename: Shekeeb S
authors.initials: SS
authors.lastname: Mohammad
authors.affiliation: Molecular Genetics Laboratory, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
authors.forename: Chiyan
authors.initials: C
authors.lastname: Lau
authors.affiliation: Department of Neurosciences, Royal Children's Hospital, Herston, QLD, Australia; Department of Anatomical Pathology, Pathology Queensland, Level 2, Block 7, Royal Brisbane and Women's Hospital and Royal Children's Hospital, Herston, QLD 4029, Australia.
authors.forename: Christopher
authors.initials: C
authors.lastname: Burke
authors.affiliation: Department of Anatomical Pathology, Pathology Queensland, Level 2, Block 7, Royal Brisbane and Women's Hospital and Royal Children's Hospital, Herston, QLD 4029, Australia.
authors.forename: Naomi
authors.initials: N
authors.lastname: McCallum
authors.affiliation: Department of Anatomical Pathology, Pathology Queensland, Level 2, Block 7, Royal Brisbane and Women's Hospital and Royal Children's Hospital, Herston, QLD 4029, Australia. Electronic address: thomas_robertson@health.qld.gov.au.
authors.forename: Thomas
authors.initials: T
authors.lastname: Robertson
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D056768:Giant Axonal Neuropathy / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D012867:Skin / Q000473:pathology*
keywords: Giant axonal neuropathy; HMSN; Microarray; Skin biopsy