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Arastoo Kaki1 
, Masumeh Jalalvand2 , Leila Abkhooie3 , Amirmasoud Jalalvand4 , Maryam Zand5 , Hamed Esmaeil Lashgarian6 , Hamidreza Khodadadi *7
, Masumeh Jalalvand2 , Leila Abkhooie3 , Amirmasoud Jalalvand4 , Maryam Zand5 , Hamed Esmaeil Lashgarian6 , Hamidreza Khodadadi *7
1- Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
2- Lorestan University of Medical Sciences, Khorramabad, Iran
3- Lorestan University of Medical Sciences, Khorramabad, Iran.
4- Shiraz University of Medical Sciences, Shiraz, Iran.
5- Zanjan, Iran.
6- Razi Herbal Medicines Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran.
7- Lorestan University of Medical Sciences, Head of Madar Medical Genetics Center, Khorramabad, Iran. ,khodadadi.hamidreza@gmail.com
2- Lorestan University of Medical Sciences, Khorramabad, Iran
3- Lorestan University of Medical Sciences, Khorramabad, Iran.
4- Shiraz University of Medical Sciences, Shiraz, Iran.
5- Zanjan, Iran.
6- Razi Herbal Medicines Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran.
7- Lorestan University of Medical Sciences, Head of Madar Medical Genetics Center, Khorramabad, Iran. ,
Abstract: (14 Views)
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.
Type of Study: Case Report Article |
Subject:
Medical Biology
Received: 2025/05/31 | Accepted: 2026/10/19
Received: 2025/05/31 | Accepted: 2026/10/19
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Journal of Advances in Medical and Biomedical Research by Zanjan University of Medical Sciences is licensed under CC BY-NC 4.0
