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A L Mosca,
P Callier,
L Faivre, N Laurent,
T Rousseau,
N Marle,
M Payet,
H Guy,
S Couvreur,
A Masurel-Paulet,
P Sagot,
C Thauvin-Robinet,
F Mugneret
American Journal of Medical Genetics Part A 08/2011; 155A(8):2031-4. · 2.39 Impact Factor
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A L Mosca,
L Pinson,
J Andrieux,
H Copin,
N Bigi,
J Puechberty,
P Sarda,
A Receveur,
H Sevestre,
S Pigeonnat, [......],
T Rousseau,
C Thauvin-Robinet,
A Masurel-Paulet,
A Schneider, N Laurent,
P Sagot,
F Mugneret,
G Lefort,
L Faivre,
P Callier
Prenatal Diagnosis 06/2011; · 2.11 Impact Factor
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Erick Denamur,
Anne-Lise Delezoide,
Corinne Alberti,
Agnès Bourillon,
Marie-Claire Gubler,
Raymonde Bouvier,
Olivier Pascaud,
Jacques Elion,
Bernard Grandchamp,
Laurence Michel-Calemard, [......],
L Loeuillet,
P Loget,
J Martinovic,
F Ménez,
F Narcy,
J J Roux,
C Rouleau-Dubois,
M Sinico,
J Tantau,
A R Wann
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ABSTRACT: The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence of two truncating mutations in the PKHD1 gene encoding the fibrocystin protein is associated with neonatal death while patients who survive have at least one missense mutation. To determine relationships between genotype and renal and hepatic abnormalities we correlated the severity of renal and hepatic histological lesions to the type of PKHD1 mutations in 54 fetuses (medical pregnancy termination) and 20 neonates who died shortly after birth. Within this cohort, 55.5% of the mutations truncated fibrocystin. The severity of cortical collecting duct dilatations, cortical tubule and glomerular lesions, and renal cortical and hepatic portal fibrosis increased with gestational age. Severe genotypes, defined by two truncating mutations, were more frequent in patients of less than 30 weeks gestation compared to older fetuses and neonates. When adjusted to gestational age, the extension of collecting duct dilatation into the cortex and cortical tubule lesions, but not portal fibrosis, was more prevalent in patients with severe than in those with a non-severe genotype. Our results show the presence of two truncating mutations of the PKHD1 gene is associated with the most severe renal forms of prenatally detected autosomal recessive polycystic kidney disease. Their absence, however, does not guarantee survival to the neonatal period.
Kidney International 11/2009; 77(4):350-8. · 6.61 Impact Factor
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P Callier,
L Faivre,
S Pigeonnat,
B Quilichini,
N Marle,
C Thauvin-Robinet,
A L Mosca,
A Masurel-Paulet,
T Rousseau,
P Sagot, N Laurent,
F Mugneret
Prenatal Diagnosis 09/2009; 29(10):1002-5. · 2.11 Impact Factor
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C Bouchet,
M Gonzales,
S Vuillaumier-Barrot,
L Devisme,
C Lebizec,
E Alanio,
A Bazin,
B Bessières-Grattagliano,
N Bigi,
P Blanchet, [......],
J Martinovic,
F Menez,
S Patrier,
F Pelluard-Nehmé,
M J Perez,
C Rouleau-Dubois,
S Triau,
A Laquerrière,
F Encha-Razavi,
N Seta
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ABSTRACT: Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and muscular dystrophy, or muscle-eye-brain disease. The most severe forms of these diseases often have a fetal presentation and lead to a pregnancy termination. We report here the first molecular study on fetal type II LIS in a series of 47 fetuses from 41 unrelated families. Sequencing of the different genes known to be involved in alpha-DG O-glycosylation allowed the molecular diagnosis in 22 families: involvement of POMT1 was demonstrated in 32% of cases, whereas POMGNT1 and POMT2 were incriminated in 15% and in 7% of cases, respectively. We found 30 different mutations in these three genes, 25 were described herein for the first time, 15 in POMT1, and five in POMT2 and POMGNT1. Despite sequencing of FKRP, FCMD, and LARGE, no definitive molecular diagnosis could be made for the other half of our cases. Preliminary results concerning genotype-phenotype correlations show that the choice of the first gene sequenced should depend on the clinical severity of the type II LIS; POMT1 and POMT2 for severest clinical picture and POMGNT1 for milder disease. The other genes, FKRP, FCMD, and LARGE, seem not to be implicated in the fetal form of CMD.
Human Mutation 11/2007; 28(10):1020-7. · 5.69 Impact Factor
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ABSTRACT: Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel-Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, bilateral multicystic kidneys, enlarged bladder and urethral atresia. The fetal chromosome analysis showed a maternally inherited unbalanced translocation between the short arm of chromosome 1 and the long arm of chromosome 14, resulting in 1p35-pter deletion and 14q32-qter duplication (46,XY,der(1),t(1;14)(p35;q32)). Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele.
Prenatal Diagnosis 07/2007; 27(6):555-9. · 2.11 Impact Factor
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The Lancet 08/2001; 358(9277):241-2. · 38.28 Impact Factor
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ABSTRACT: Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly.
Prenatal Diagnosis 07/2001; 21(6):466-70. · 2.11 Impact Factor
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ABSTRACT: Recurrent cytomegalovirus infection during pregnancy is considered less dangerous for the fetus than primary infection. We present a case of severe fetal cytomegalic inclusion disease after maternal reactivation of cytomegalovirus during the first trimester of pregnancy. The possibility of such fetal injury is an argument for prenatal diagnosis in seropositive pregnant women when ultrasonographic findings suggest cytomegalovirus infection.
Prenatal Diagnosis 05/2000; 20(4):333-6. · 2.11 Impact Factor
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L. Faivre,
K.A. Williamson,
V. Faber, N. Laurent,
M. Grimaldi,
C. Thauvin-Robinet,
C. Durand,
F. Mugneret,
J.B. Gouyon,
A. Bron,
F. Huet,
C. Hayward,
V. van Heyningen,
D.R. FitzPatrick
Am.J.Med.Genet.A. ..
