title: Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.
abstract: Harequin ichthyosis is a severe autosomal recessive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene. We report two neonates of Indian origin with harlequin ichthyosis. The parents were retrospectively found to have novel mutations in ABCA12 gene after neonatal demise, which helped in providing prenatal diagnosis in subsequent pregnancies.
authors.affiliation: Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, India.
authors.forename: Shagun
authors.initials: S
authors.lastname: Aggarwal
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, India; Manipal University, Manipal, India.
authors.forename: Anjana
authors.initials: A
authors.lastname: Kar
authors.affiliation: Department of Centre for Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors.forename: Philip
authors.initials: P
authors.lastname: Bland
authors.affiliation: Department of Centre for Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors.forename: David
authors.initials: D
authors.lastname: Kelsell
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, India. Electronic address: ashwindalal@gmail.com.
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D016368:Frameshift Mutation; D005817:Genetic Counseling; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics*; D007194:India; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters
keywords: ABCA12 mutations; Harlequin ichthyosis; Molecular testing