Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome

• Published in: Annals of laboratory medicine Vol. 38; no. 1; pp. 80 - 82
• Main Authors: Kim, Je Yeon, Kim, Shin Hye, Park, Mi Jung, Kim, Soung Hee, Cho, Woo Ho, Choi, Jin, Ki, Chang Seok, You, Su Jeong
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Society for Laboratory Medicine 01.01.2018; 대한진단검사의학회
• Subjects: Aldehyde Oxidoreductases - genetics; Brain - diagnostic imaging; Child; Homozygote; Humans; Ichthyosis - diagnosis; Letter to the Editor; Magnetic Resonance Imaging; Male; Pedigree; Republic of Korea; Retinitis Pigmentosa - diagnosis; Sequence Analysis, DNA; Sjogren-Larsson Syndrome - diagnosis; Sjogren-Larsson Syndrome - genetics; 병리학; Republic of Korea
• ISSN: 2234-3814; 2234-3806; 2234-3814
• DOI: 10.3343/alm.2018.38.1.80

Dear Editor, Sjögren–Larsson syndrome (SLS; OMIM 270200) is an autosomal recessive disorder caused by deficiency of fatty aldehyde dehydrogenase (FALDH) owing to mutations in ALDH3A2 [1]. Patients with SLS usually have ichthyosis after birth, spastic paraplegia, and mental retardation. On ocular examination, crystalline macular dystrophy is often observed, which can result in photophobia or reduced visual sensitivity in affected patients [2, 3]. In Korea, there have been a few case reports on SLS but, as far as we know, none was confirmed by genetic testing [4-7]. Although some patients show typical clinical features of SLS, its phenotype can be variable so that genetic testing of ALDH3A2 should be performed to make a diagnosis of SLS. We present clinical and genetic findings of a Korean patient with SLS KCI Citation Count: 2