title: Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.
abstract: Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder inherited in an autosomal recessive fashion. SLS patients are characterized by lipid metabolism error, primarily leading to cardinal signs of ichthyosis, spasticity and mental retardation. Additional signs include short stature, epilepsy, retinal abnormalities and photophobia. More than 90 mutations of the ALDH3A2 gene have been reported for SLS, and such variants can be successfully detected at a rate of 94% by direct DNA sequencing. We performed direct sequencing of ALDH3A2 gene from the index patient, however, no mutation could be detected. HumanCytoSNPs12 array analysis and subsequent targeted single nucleotide polymorphism analysis revealed a novel deletion mutation at chromosome 17p11.2. This 67-Kb region includes the first five coding exons of ALDH3A2, and is flanked by rs2245639 and rs962801. To the best of our knowledge, this mutation is novel and our findings broaden the mutation spectrum of ALDH3A2 causing SLS phenotype.
authors: Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.|Medical Genetic Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
authors: Nagwa E A
authors: NE
authors: Gaboon
authors: Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.|Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
authors: Musharraf
authors: M
authors: Jelani
authors: Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Mona M
authors: MM
authors: Almramhi
authors: Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.|Human Genetics Research Centre, Division of Biomedical Sciences (BMS), St George's University of London, London, UK.
authors: Hussein S A
authors: HS
authors: Mohamoud
authors: Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.|Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Jumana Y
authors: JY
authors: Al-Aama
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002886:Chromosomes, Human, Pair 17; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D017384:Sequence Deletion; D016111:Sjogren-Larsson Syndrome / Q000235:genetics*
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase
keywords: 67-Kb deletion; ALDH3A2; Saudi Arabia; Sjögren-Larsson syndrome; homozygous