A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.

Détails

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Etat: Serval
Version: de l'auteur
ID Serval
serval:BIB_87E1DCEC29A7
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.
Périodique
European Journal of Medical Research
Auteur(s)
Zemrani B., Cachat F., Bonny O., Giannoni E., Durig J., Fellmann F., Chehade H.
ISSN
2047-783X (Electronic)
ISSN-L
0949-2321
Statut éditorial
Publié
Date de publication
2016
Peer-reviewed
Oui
Volume
21
Pages
19
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Résumé
BACKGROUND: Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype-phenotype correlations have been reported, often with great clinical variability. We hereby report a novel homozygous nonsense mutation in the LAMB2 gene, associated with a severe phenotype presentation.
CASE DIAGNOSIS: We describe a term male infant born from consanguineous parents. The mother previously lost three children in the neonatal period, secondary to undefined renal disease, had two spontaneous abortions, and gave birth to one healthy daughter. The index case presented at birth with bilateral microcoria, severe hypotonia, respiratory distress, and congenital nephrotic syndrome associated with anuria and severe renal failure requiring peritoneal dialysis. The patients' clinical follow-up was unfavorable, and the newborn died at 7 days of life, after withdrawal of life support. Genetic analysis revealed a homozygous nonsense mutation at position c.2890C>T causing a premature stop codon (p.R964*) in LAMB2 gene.
CONCLUSION: We here describe a novel nonsense homozygous mutation in LAMB2 gene causing a severe neonatal presentation of Pierson syndrome. This new mutation expands the genotype-phenotype spectrum of this rare disease and confirms that truncating mutations might be associated with severe clinical features.
Mots-clé
Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Codon, Nonsense, Consanguinity, DNA Mutational Analysis, Eye Abnormalities/genetics, Eye Abnormalities/pathology, Family Health, Fatal Outcome, Female, Humans, Infant, Newborn, Laminin/genetics, Male, Nephrotic Syndrome/genetics, Nephrotic Syndrome/pathology, Pedigree, Phenotype, Pupil Disorders/genetics, Pupil Disorders/pathology, Severity of Illness Index
Pubmed
Web of science
Création de la notice
17/05/2016 19:01
Dernière modification de la notice
03/03/2018 19:03
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