Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.

ABSTRACT:

Backgroundd

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability.

Methods

We report a seven-years-old female born to consanguineous parents who presented with erythematous dry scaly skin all over the body sparing the face, without collodion membrane which started since birth. There were associated with global developmental delay and seizure disorder. SLS was suspected and hence sequence analysis of the ALDH3A2 gene by next-generation sequencing was performed for the patient.

Results

A novel nucleotide exchange in homozygous state at position c.1320 in exon 9 of the ALDH3A2 gene (c.1320T>A), leading to a stop of the protein sequence (p.Tyr44

SUBMITTER: Abidi KT 

PROVIDER: S-EPMC7667322 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature