Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue Molecular Syndromology Année : 2021

Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance

Farooq Ahmad
  • Fonction : Auteur
Ishtiaq Ahmed
  • Fonction : Auteur
Qamre Alam
  • Fonction : Auteur
Tanveer Ahmad
  • Fonction : Auteur
Ammara Khan
  • Fonction : Auteur
Ijaz Ahmad
  • Fonction : Auteur
Muhammad Bilal
  • Fonction : Auteur
Amir Hayat
  • Fonction : Auteur
Ahmad Khan
  • Fonction : Auteur
  • PersonId : 1217656
Ahmed Waqas
  • Fonction : Auteur
Misbahuddin M. Rafeeq
  • Fonction : Auteur
Ziaullah M. Sain
  • Fonction : Auteur
Muhammad Umair
  • Fonction : Auteur

Résumé

The term autosomal recessive congenital ichthyosis (ARCI) is the subgroup of ichthyosis, which describes a highly heterogeneous group of genetic disorders of the skin characterized by cornification and defective keratinocytes differentiation associated with mutations in at least 14 genes including PNPLA1. To study the molecular basis of the Pakistani kindreds (A and B) affected by ARCI, whole-exome sequencing (WES) in the DNA samples of affected members was performed followed by Sanger sequencing of the candidate gene to hunt down the disease-causing sequence variant/s. WES data analysis led to the identification of a novel nonsense sequence variant (c.892C>T; p.Arg298*, family A) and a recurrent missense variant (c.102C>A; p.Asp34Glu, family B) in PNPLA1 mapped to the ARCI locus in chromosome 6p21.31. Validation and cosegregation analysis of the variants in the remaining family members of the respective families were confirmed by Sanger sequencing. The current investigation expands the spectrum of PNPLA1 mutations and helps establish the proper clinico-genetic diagnosis and correct genotype-phenotype correlation.

Dates et versions

hal-03948042 , version 1 (19-01-2023)

Identifiants

Citer

Farooq Ahmad, Ishtiaq Ahmed, Qamre Alam, Tanveer Ahmad, Ammara Khan, et al.. Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance. Molecular Syndromology, 2021, 12 (6), pp.351-361. ⟨10.1159/000516943⟩. ⟨hal-03948042⟩
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