Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome

Abstract

Key Clinical MessageSjögren–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 applicable for further molecular studies and management of SLS.

The first central precocious puberty proteomic profiles revealed multiple metabolic networks and novel key disease-associated proteins

“…However, the existing studies on ALDH3A2 and ALDH9A1 are less. ALDH3A2 mutation has been reported to cause Sjögren-Larsson syndrome [ 37 , 38 ] and the variation of ALDH9A1 maybe a related pathogenic factor of renal cancer [ 39 ]. Further to explore the role of ALDH3A2 and ALDH9A1 in central precocious puberty will be interesting.…”

Genotype and phenotype variability in Sjögren-Larsson syndrome

“…Finally, eight publications were excluded because of probable patient double counts or other specific reasons (prenatally diagnosed patients, etc.). In total, 50 publications contained relevant genetic data and qualified for inclusion in this study (Alió, Bird, McClellan, & Cunningham, ; Aoki, Suzuki, Ito, & Ito, ; Auada et al., ; Botelho Gomes et al., ; Burgueño‐Montañés, Garcia‐Fernández, Colunga‐Cueva, & Garcia‐López, ; Carney et al., ; Cubo & Goetz, ; Davis et al., ; De Laurenzi et al., ; Didona et al., ; Engelstad et al., ; Gaboon, Jelani, Almramhi, Mohamoud, & Al‐Aama, ; Gånemo et al., ; Garcia‐Peris, Latour‐Álvarez, Pestana‐Eliche, & Sánchez, ; Hidalgo et al., ; Incecık, Herguner, Rizzo, & Altunbasak, , ; Jain et al., ; Jean‐François, Low, Gonzales, & Sarraf, ; Kariminejad et al., ; Kim et al., ; Kraus et al., ; Lossos et al., ; Möhrenschlager, Braun‐Falco, & Ring, ; Nagappa et al., ; Nakajima et al, ; Nakano et al., ; Paiva et al., ; Papathemeli et al., ; Rafai et al., ; Rizzo et al., , ; Sakai et al., , ; Sanabria & Coco, ; Sarret et al., ; Shah et al., ; Shamriz, Molho‐Pessach, Shaag, Daum, & Stepensky, ; Shibaki, Akiyama, & Shimizu, ; Sijens et al., ; Sillén et al., ; Tachibana, Aida, Enomoto, Iai, & Kurosawa, ; Taghdiri, Kashef, Fardaei, & Miryounesi, ; Takeichi et al., ; Tanteles et al., ; Tavasoli et al., ; Tsukamoto, Chang, & Yoshida, ; Vural et al., ; Willemsen et al., ; Yiş and Terrinoni, ). One further yet unpublished case has been included into the database. Data extraction : Most of the selected publications contained both, genetic and phenotypic/other information, which was categorized into three groups: …”