title: Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.
abstract: We undertook in this study the first successful prenatal diagnoses of MDC1A and LGMD2C forms in Africa, with a subsequent postnatal clinical follow-up of the newborns. Genetic and molecular studies were performed on cultured amniotic fluid cells after exclusion of maternal cell contamination. Immunofluorescence on the patients' muscle biopsies was performed so as to study the expression of muscular laminins. Results showed that normal and affected fetuses were diagnosed according to the presence or the absence of the responsible mutation in LAMA2 or SGCG genes. Postnatal molecular and clinical outcome was concordant with all prenatal diagnoses. However, a patient with MDC1A form of congenital muscular dystrophy who was diagnosed as affected was normal at birth, and developed later clinical features different from those observed in his severely affected elder brother. This intrafamilial clinical variability in two siblings occurring with the same mutation in LAMA2 gene emphasizes the importance of the postnatal follow-up in the confirmation of prenatal diagnosis, and suggests that other genetic or epigenetic factors can monitor the course of the MDC1A form.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Sfax, Tunisia. olfa_siala@yahoo.fr
authors.forename: Olfa
authors.initials: O
authors.lastname: Siala
authors.forename: Fatma
authors.initials: F
authors.lastname: Kammoun Feki
authors.forename: Nacim
authors.initials: N
authors.lastname: Louhichi
authors.forename: Ikhlass
authors.initials: I
authors.lastname: Hadj Salem
authors.forename: Moez
authors.initials: M
authors.lastname: Gribaa
authors.forename: Hatem
authors.initials: H
authors.lastname: Elghzel
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.forename: Chahnez
authors.initials: C
authors.lastname: Triki
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005821:Genetic Techniques; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007797:Laminin / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D049031:Sarcoglycans / Q000235:genetics; D014416:Tunisia
chemical_list: D017931:DNA Primers; D007797:Laminin; D049031:Sarcoglycans; C102645:laminin alpha 2