A Novel Transglutaminase-1 Missense Mutation in a Palestinian Family with Autosomal Recessive Congenital Ichthyosis: A Case Report
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2015, Vol 5, Issue 8
Abstract
This work presents the molecular genetics investigation of a male neonate referred to our genetics laboratory with the diagnosis of classical lamellar ichthyosis (one form of autosomal recessive congenital ichthyosis). The neonate was born as a "collodion-baby" and he is the product of a maternal first cousin marriage. DNA sequencing of the coding exons of transglutiminase-1 (TGM1) gene revealed a novel missense (c.A1621C) mutation in exon 11. The mutation altered codon 541 from ACC into CCC thus changing the amino acid threonine into proline (p.T541P) and was predicted to be pathogenic. The presence of the mutation in both parents in heterozygous form and in the patient in homozygous form was further confirmed by PCR-restriction fragment length polymorphism (PCR-RFLP) designed specifically for the identified mutation. It is concluded that the T541P mutation is the cause of the congenital ichthyosis in the presented case and the parents were advised to undergo a PGD-IVF for embryo selection prior to their next pregnancy.
Authors and Affiliations
Mohammed J. Ashour, Shadi F. Al-Ashi, Fadel A. Sharif
Keywords
Related Articles
- EP ID EP347134
- DOI 10.9734/BJMMR/2015/10731
- Views 84
- Downloads 0
Association between Intraoperative and Post-Anesthetic Care Unit Respiratory Events among 12,641 Children in Southern Thailand
Aims: The association between intraoperative respiratory events (IRE) and post-anesthetic care unit respiratory events (PARE) in children as well as the risk factors for PARE have not been described. The objectives of th...
Mortality Rate Pre-assessment Based on Trips Score
Treatment and care for newborn babies are provided at medical centres by personnel with the required education and experience using special equipment. Similar to the situation in many other countries, centres with such c...
The Potential Therapeutic Benefit of Diclofenac Sodium in Treatment of Patients with Type-2 Diabetes Mellitus
Background: Type-2 diabetes mellitus, is associated with low-grade chronic inflammation, which could contribute to its pathogenesis. The objective of this study is to evaluate the role of the non-steroidal antinflammator...
The Art and Science of the Medical Auscultation: Respiratory Sounds
Auscultation of the chest is a very old diagnostic method. Originally, it was performed by the examiner directly hearing into the patient's chest, and this practice dates back to the time of Hippocrates. The original des...
Chuckling Smile: Ceramic Veneer
Smiling is not a simple option in those patients who have a severe aesthetic deformity. Many definitions of aesthetics were introduced in dentistry but according to Young, beauty, harmony, naturalness and individuality a...