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

Autor: Abidi KT; Faculty of Medicine, Al Manar University, Tunis, Tunisia., Kamal NM; Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt., Bakkar A AA; Alhada Armed Forces Hospital, Taif, KSA., Alotaibi M; Alhada Armed Forces Hospital, Taif, KSA., Asseri H; Alhada Armed Forces Hospital, Taif, KSA., Bokari KA; Taif University, Taif, KSA.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1487. Date of Electronic Publication: 2020 Sep 15.
DOI: 10.1002/mgg3.1487
Abstrakt: 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.Tyr440) was detected in the patient. Genetic testing of the patient's extended family revealed another four affected family members with the same mutation.
Conclusions: SLS should be suspected in any patient with a triad of ichthyosis, intellectual disability and spastic di/tetraplegia. Molecular genetic testing of the ALDH3A2 gene should be performed to confirm the diagnosis. Extended family screening is highly recommended.
(© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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