Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome
نویسندگان
چکیده
Je Yeon Kim, M.D., Shin-Hye Kim, M.D., Mi-Jung Park, M.D., Soung Hee Kim, M.D., Woo Ho Cho, M.D., Jin Choi, M.D., Chang-Seok Ki, M.D., and Su Jeong You, M.D. Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Ophthalmology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
منابع مشابه
Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is...
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Fig. S1. ALDH3A2 mutations in the patient with Sjögren-Larsson syndrome and sequence alignments around the missense mutation. (A) Direct sequencing reveals a heterozygous c.1157A>G (p.N386S) transition in exon 8 of the ALDH3A2 gene in the patients and their mother, but not in their father or normal control samples. (B) A heterozygous c.1291_1292delAA (p.Lys431Glufs*5) mutation is found in exon ...
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عنوان ژورنال:
دوره 38 شماره
صفحات -
تاریخ انتشار 2018