Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.

Autor: Ennouri M; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax University, Street of Soukra km 4, BP 1171-3000, Sfax, Tunisia. mariamnouri1992@gmail.com., Zimmer AD; Faculty of Medicine, Institute of Human Genetics, Medical Center, University of Freiburg, Freiburg, Germany., Bahloul E; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax, Tunisia., Chaabouni R; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax, Tunisia., Marrakchi S; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax, Tunisia., Turki H; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax, Tunisia., Fakhfakh F; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax University, Street of Soukra km 4, BP 1171-3000, Sfax, Tunisia., Bougacha-Elleuch N; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax University, Street of Soukra km 4, BP 1171-3000, Sfax, Tunisia., Fischer J; Faculty of Medicine, Institute of Human Genetics, Medical Center, University of Freiburg, Freiburg, Germany.
Jazyk: angličtina
Zdroj: BMC medical genomics [BMC Med Genomics] 2022 Jan 05; Vol. 15 (1), pp. 4. Date of Electronic Publication: 2022 Jan 05.
DOI: 10.1186/s12920-021-01154-z
Abstrakt: Background: Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms. Syndromic ichthyosis is rather a large group of heterogeneous diseases. Overlapping phenotypes and genotypes between these disorders is a major characteristic. Therefore, determining the specific genetic background for each form would be necessary.
Methods: A total of 11 Tunisian patients with non-syndromic (8 with ARCI and 2 with ILC) and autosomal syndromic ichthyosis (1 patient) were screened by a custom Agilent HaloPlex multi-gene panel and the segregation of causative mutations were analyzed in available family members.
Results: Clinical and molecular characterization, leading to genotype-phenotype correlation in 11 Tunisian patients was carried out. Overall, we identified 8 mutations in 5 genes. Thus, in patients with ARCI, we identified a novel (c.118T > C in NIPAL4) and 4 already reported mutations (c.534A > C in NIPAL4; c.788G > A and c.1042C > T in TGM1 and c.844C > T in CYP4F22). Yellowish severe keratoderma was found to be associated with NIPAL4 variations and brachydactyly to TGM1 mutations. Two novel variations (c.5898G > C and c.2855A > G in ABCA12) seemed to be features of ILC. Delexon13 in CERS3 was reported in a patient with syndromic ichthyosis.
Conclusions: Our study further extends the spectrum of mutations involved in ichthyosis as well as clinical features that could help directing genetic investigation.
(© 2022. The Author(s).)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje