A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) are hypomyelinating disorders of the central nervous system with a very similar phenotype. PMD is an X-linked disorder caused by mutations in PLP1. PMLD is an autosomal recessive condition caused by mutations in GJA12. We report a 5-year-old girl with a complex neurological syndrome and severe hypomyelination on brain magnetic resonance imaging. She harbored a homozygous 34-bp deletion in the coding region of GJA12. There are no distinctive features for the differential diagnosis of PMD/PMLD. GJA12 should be analyzed in all patients without PLP1 mutations but should also be considered the initial genetic test in women and in patients with consanguineous parents.
Salviati
Leonardo
L
Clinical Genetics, Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128, Padua, Italy, leonardo.salviati@unipd.it.
Trevisson
Eva
E
Baldoin
Maria Cristina
MC
Toldo
Irene
I
Sartori
Stefano
S
Calderone
Milena
M
Tenconi
Romano
R
Laverda
AnnaMaria
A
D001483:Base Sequence; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D017931:DNA Primers; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D017384:Sequence Deletion
D017630:Connexins; D017931:DNA Primers; C427305:connexin 47; D004247:DNA