Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
24
05
2020
revised:
10
08
2020
accepted:
11
08
2020
pubmed:
16
9
2020
medline:
8
6
2021
entrez:
15
9
2020
Statut:
ppublish
Résumé
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability. 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. 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. 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.
Sections du résumé
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.
Identifiants
pubmed: 32930514
doi: 10.1002/mgg3.1487
pmc: PMC7667322
doi:
Substances chimiques
Aldehyde Oxidoreductases
EC 1.2.-
long-chain-aldehyde dehydrogenase
EC 1.2.1.48
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1487Informations de copyright
© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
Références
Mol Genet Metab. 2011 Nov;104(3):356-61
pubmed: 21684788
Biochim Biophys Acta. 2014 Mar;1841(3):377-89
pubmed: 24036493
J Dermatol. 2015 Jul;42(7):706-9
pubmed: 25855245
Case Rep Pediatr. 2017;2017:7981750
pubmed: 29181214
Arq Neuropsiquiatr. 2006 Jun;64(2B):398-401
pubmed: 16917608
Clin Genet. 1982 Apr;21(4):243-52
pubmed: 6179662
Appl Clin Genet. 2020 Jan 07;13:13-24
pubmed: 32021380
Expert Opin Orphan Drugs. 2016 Apr;4(4):395-406
pubmed: 27547594
Ophthalmology. 2010 May;117(5):966-71
pubmed: 20163870
Clin Genet. 2018 Apr;93(4):721-730
pubmed: 28543186
Mol Genet Genomic Med. 2020 Nov;8(11):e1487
pubmed: 32930514
Indian Dermatol Online J. 2011 Jan;2(1):31-3
pubmed: 23130213
Dev Neurorehabil. 2009 Apr;12(2):106-12
pubmed: 19340663
J Hum Genet. 2007;52(10):865-870
pubmed: 17902024
Mol Genet Metab. 2007 Jan;90(1):1-9
pubmed: 16996289
Acta Psychiatr Neurol Scand Suppl. 1957;113:1-112
pubmed: 13457946