Journal of Advances in Medical and Biomedical Research

en Novel TGM1 Variant in an Iranian Family with Autosomal Recessive Congenital Ichthyosis Medical Biology Medical Biology گزارش موردی Case Report Article <div style="text-align: justify;">Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare, heterogenous keratinization disorder of the skin, specific subtypes within ARCI include lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis (HI), self-healing collodion, acral self-healing collodion, and swimsuit ichthyosis. The clinical picture and family history are of great importance in formulating the diagnostic, but only identification of the genetic defect allows correct classification. Autosomal recessive congenital ichthyosis (ARCI) is primarily caused by mutations in the TGM1 gene. We report a consanguineous Iranian family with the presence of bright yellow, hyperkeratotic plates covering her entire body. The whole exome sequencing (WES) was identified a novel variant (c.1196C>T (p.Thr399Ile)) in TGM1. Sanger sequencing was used to confirm the identified variant in proband. The conservation study of the protein and the variant tolerance at each position in TGM1 protein were performed by Consurf server and Clustal Omega. In addition, we summarize the TGM1 variants and related clinical findings in all reported Iranian families in medical literature, including 71 patients from 50 unrelated families. The most common ARCI subtype was lamellar ichthyosis (42, 82%). Totally, 41 unique TGM1 variants comprised the genetic basis of disease in these 50 unrelated families. Of these 41 variants, 25 (60%) represent missense mutations, while the remaining are putative LOF mutations (1 frameshifts, 5 splice sites, 6 nonsenses and 4 indel). Thirty-six of the reported families were homozygous, consistent with consanguineous parental unions. As a result, the present study not only expands the range of TGM1 mutations and contributes to genetic counseling of families with familial form of ARCI, but also improves pathogenicity awareness in Iranian patients with this disorder.  </div> Autosomal Recessive Congenital Ichthyosis, TGM1, Consanguins familiers 60 60 http://journal.zums.ac.ir/browse.php?a_code=A-10-7296-1&slc_lang=en&sid=1 Arastoo Kaki kaki.arastoo@gmail.com 5200319475328460092308 5200319475328460092308 No Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran Masumeh Jalalvand masumehjalalvand@gmail.com 5200319475328460092309 5200319475328460092309 No Lorestan University of Medical Sciences, Khorramabad, Iran leila Abkhooie lilaabkhooie@yahoo.com 5200319475328460092310 5200319475328460092310 No Lorestan University of Medical Sciences, Khorramabad, Iran. Amirmasoud Jalalvand amirmasoudjalalvand749@gmail.com 5200319475328460092311 5200319475328460092311 No Shiraz University of Medical Sciences, Shiraz, Iran. Maryam Zand maryam.zand7072@yahoo.com 5200319475328460092312 5200319475328460092312 No Zanjan, Iran. Hamed Esmaeil Lashgarian hamedesmaiili@gmail.com 5200319475328460092313 5200319475328460092313 No Razi Herbal Medicines Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran. Hamidreza Khodadadi khodadadi.hamidreza@gmail.com 5200319475328460092314 5200319475328460092314 Yes Lorestan University of Medical Sciences, Head of Madar Medical Genetics Center, Khorramabad, Iran.