title: Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.
abstract: Peters plus syndrome is an autosomal recessive rare disorder comprising ocular anterior segment dysgenesis, short stature, hand abnormalities, distinctive facial features, and often other major/minor additional defects. Peters plus syndrome is related to mutations in the B3GALTL gene with only seven recently reported mutations, leading to the inactivation of the B1, 3-glucosyltransferase. In this study, we screened the B3GALTL gene in two unrelated patients with typical Peters plus syndrome. A novel homozygous c.597-2A>G mutation was identified in both patients. Bioinformatic analyses showed that this mutation modulates the pre mRNA secondary structure of the gene, and decreases the score value related to the formation of splicing loops. Moreover, the c.597-2A>G mutation is located in a CpG Island of the B3GALTL gene, suggesting a potential epigenetic role of this position including gene's methylation and regulation. These data confirm an important role of the B3GALTL gene test that provides diagnosis confirmation and improves genetic counseling for the families.
authors: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Tunisia. olfa_siala@yahoo.fr
authors: Olfa
authors: O
authors: Siala
authors: Neila
authors: N
authors: Belguith
authors: Hassen
authors: H
authors: Kammoun
authors: Bourane
authors: B
authors: Kammoun
authors: Nedia
authors: N
authors: Hmida
authors: Imen
authors: I
authors: Chabchoub
authors: Mongia
authors: M
authors: Hchicha
authors: Faiza
authors: F
authors: Fakhfakh
mesh_terms: D000015:Abnormalities, Multiple / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D001483:Base Sequence; D002648:Child; D002971:Cleft Lip; D003315:Cornea / Q000002:abnormalities / Q000473:pathology; D018899:CpG Islands; D004274:DNA, Recombinant / Q000235:genetics; D005700:Galactosyltransferases / Q000235:genetics*; D005964:Glucosyltransferases / Q000235:genetics*; D006130:Growth Disorders / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017880:Limb Deformities, Congenital / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D012326:RNA Splicing / Q000235:genetics; D012333:RNA, Messenger / Q000737:chemistry* / Q000235:genetics*; D014416:Tunisia / Q000208:ethnology
chemical_list: D004274:DNA, Recombinant; D012333:RNA, Messenger; C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases