RRML - NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2020): 75%

Română English

Journal Metrics

Impact Factor 0.5
Five Year Impact Factor 0.5
JCI 0.12

Advanced search

Top 10 downloaded articles
- June 2024 -
The evaluation of a diagnostic... 10
A comprehensive review of Prof... 9
Assessment of ocrelizumab impa... 7
Romanian Review of Laboratory ... 6
Monitoring the sensitivity of ... 6
Challenges in prophylactic the... 6
Diagnostic value of stress myo... 6
Effect of Systemic Inflammator... 5
Evaluation of routine laborato... 4
The role of nitro oxidative fa... 4

Log in

Concept, Design & Programming
Dr. Adrian Man

Nr. 24(4)/2016 DOI:10.1515/rrlm-2016-0034

Short communication

NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

Dalila Maier, Adrian Florea, Mariana Cornelia Tilinca, Ancuța Zazgyva, Rodica Cosgarea

Correspondence should be addressed to: Mariana Cornelia Tilinca


Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation c.527C>A. Material and methods: Three Caucasian patients were investigated, two sisters and an unrelated female patient, aged 47, 49, and 42 respectively. Skin anomalies were recorded and documented photographically; peripheral blood samples were harvested for DNA extraction and gene analysis. Skin biopsies were used for histological assessment, electron microscopy, and evaluation of in situ transglutaminase 1 activity. Results: All patients presented with generalized ichthyosis, palmoplantar keratoderma, normal hair shafts, and significant oral manifestations. Natural evolution was relatively stable in all cases, without phenotype changing. Medical treatment with retinoids in patients 1 and 2 resulted in normalisation of the skin condition. Histological samples showed hyperkeratosis, acanthosisand perivascular inflammatory infiltrates in the dermis. Positive findings of transglutaminase 1 in situ activity excluded TGM1 deficiency. Direct sequencing of amplicons revealed one homozygous mutation in exon 4, a c.527C>A missense mutation. Conclusions: This is the first report of the hotspot mutation NIPAL4 c.527C>A in Romanian autosomal recessive congenital ichthyosis patients. The phenotype was similar to that reported in the literature, while transglutaminase 1 activity in situ assay detected differences in enzyme distribution between patients bearing the same mutation but different phenotypes. Based on the current data, NIPAL4 mutations are more frequent than TGM1 mutations in Romanian patients with autosomal recessive congenital ichthyosis.

Keywords: autosomal recessive congenital ichthyosis;NIPAL4 mutation; transglutaminase 1; electron microscopy

Received: 7.6.2016
Accepted: 21.9.2016
Published: 26.9.2016

  PDF Download full text PDF
(1317 KB)
How to cite
Maier D, Florea A, Tilinca MC, Zazgyva A, Cosgarea R. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis. Rev Romana Med Lab. 2016;24(4):387-97. DOI:10.1515/rrlm-2016-0034