Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene. Here we report a Hungarian pedigree affected by the lamellar ichthyosis clinical form of the ARCI1 phenotype. Direc...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2018-06-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
MARC
| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_ac443700172d491a9dda6f53da53a319 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Adrienn Sulák |e author |
| 700 | 1 | 0 | |a Kornélia Tripolszki |e author |
| 700 | 1 | 0 | |a Katalin Farkas |e author |
| 700 | 1 | 0 | |a Márta Széll |e author |
| 700 | 1 | 0 | |a Nikoletta Nagy |e author |
| 245 | 0 | 0 | |a Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene |
| 260 | |b Wolters Kluwer Medknow Publications, |c 2018-06-01T00:00:00Z. | ||
| 500 | |a 1027-8117 | ||
| 500 | |a 10.1016/j.dsi.2017.08.001 | ||
| 520 | |a Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene. Here we report a Hungarian pedigree affected by the lamellar ichthyosis clinical form of the ARCI1 phenotype. Direct sequencing revealed two recurrent heterozygous mutations: a splice site (c.877-2A > G) and a missense (c.1135G > C, p.Val379Leu) mutation. This splice site mutation is the most frequently observed in ARCI1 worldwide. The missense mutation is relatively rare and has been reported in only 13 Scandinavian patients. Comparison of the clinical phenotypes of our Hungarian patients and the Scandinavian patients demonstrates great phenotypic diversity associated with the p.Val379Leu genotype. Keywords: Autosomal recessive congenital ichthyosis type 1, Genotype-phenotype correlations, Lamellar ichthyosis phenotype, Phenotypic diversity, TGM1 gene | ||
| 546 | |a EN | ||
| 690 | |a Dermatology | ||
| 690 | |a RL1-803 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Dermatologica Sinica, Vol 36, Iss 2, Pp 89-92 (2018) | |
| 787 | 0 | |n http://www.sciencedirect.com/science/article/pii/S1027811717300617 | |
| 787 | 0 | |n https://doaj.org/toc/1027-8117 | |
| 856 | 4 | 1 | |u https://doaj.org/article/ac443700172d491a9dda6f53da53a319 |z Connect to this object online. |