A5074112565- Genomic variations and chromosomal abnormalities
- Congenital limb and hand anomalies
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Hedgehog Signaling Pathway Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Craniofacial Disorders and Treatments
- Epigenetics and DNA Methylation
- Developmental Biology and Gene Regulation
- Congenital Anomalies and Fetal Surgery
- Genetic Syndromes and Imprinting
- BRCA gene mutations in cancer
- RNA regulation and disease
- Connective tissue disorders research
- dental development and anomalies
- Sexual Differentiation and Disorders
- Oral and Craniofacial Lesions
- RNA modifications and cancer
- Renal and related cancers
- Congenital Diaphragmatic Hernia Studies
- Congenital Ear and Nasal Anomalies
- Protein Tyrosine Phosphatases
Université de Lille
2014-2024
Centre Hospitalier Universitaire de Lille
2012-2024
Hôpital Jeanne de Flandre
2012-2023
Université Lille Nord de France
2011-2023
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme
2016-2019
Groupe Hospitalier de l'Institut Catholique de Lille
2019
Genotype (Germany)
2019
Institut de Biologie de Lille
2018
Lille’s Cardiology Hospital
2009-2017
Washington Center
2014
Microdeletions of the 22q11 region, responsible for velo-cardio-facial syndrome (VCFS), are associated with an increased risk psychosis and mental retardation.Recently, it has been shown in a hyperprolinemic mouse model that interaction between two genes localized hemideleted proline dehydrogenase (PRODH ) catechol-o-methyl-transferase (COMT ), could be involved this phenotype.Here, we further characterize eight children molecular basis type I hyperprolinemia (HPI), recessive disorder...
Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma retinol binding protein, have been identified such patients. We performed STRA6 molecular analysis three fetuses one child diagnosed with Matthew-Wood siblings where two adult living brothers affected...
Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by association craniofacial and limb malformations. Recently, exome sequencing studies identified SF3B4 gene as cause this condition in most patients. encodes a highly conserved protein implicated mRNA splicing bone morphogenic (BMP) signaling. We performed 14 families (18 patients) whose features were suggestive found nine mutations predicted result loss-of-function. is major responsible for autosomal...
Abstract LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly in mice, Lmx1b has been shown to play crucial roles the development of limb, eye. Although one functional allele appears adequate for development, null mice display ventral-ventral distal limbs with abnormal kidney, eye cerebellar more disruptive, but fully concordant NPS. In knockouts (KOs),...
Abstract The combination of pulmonary agenesis/dysgenesis/hypoplasia, microphthalmia/anophthalmia, and a diaphragmatic defect (agenesis or eventration) is rare syndrome presumed to have an autosomal recessive mode inheritance based on report affected siblings born unaffected parents [Seller et al., 1996 ]. condition known as Spear Matthew‐Wood syndrome, although genetic heterogeneity cannot be ruled out. We eight patients with this including living child, three sibs isolated cases. Most...
Abstract Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array‐CGH. Clinical features associate mild moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, downslanting palpebral features, long philtrum), hands (particularly proximal implanted thumbs) genital anomalies (micropenis, hypospadias). We report here on four de novo cases having 2.5–6.1 Mb deletions involving 15q24: one...
Abstract Supravalvular aortic aneurysms are less frequent than abdominal ones. Among aneurysm aetiologies, we focused on dystrophic lesions as they can be secondary to genetic causes such elastin anomaly. We report a familial 7q11.23 triplication – including the ELN gene segregating with supravalvular aneurysm. During her first pregnancy, our index patient was diagnosed tuberous sclerosis and The foetus affected equally. For second parents applied for preimplantation diagnosis, subsequent...
Thrombocytopenia-absent radius (TAR) syndrome is characterized by radial defect and neonatal thrombocytopenia. It caused biallelic variants of RBM8A gene (1q21.1) with the association a null allele hypomorphic noncoding variant. encodes Y14, core protein exon junction complex involved in messenger RNA maturation. To date, only two have been identified. We report on cohort 26 patients affected TAR carrying RBM8A. Half carried 1q21.1 deletion one known variants. Four novel were identified...
Abstract Spinal muscular atrophy (SMA) is an autosomal recessive disorder associated with homozygous deletion of the survival motor neuron 1 gene ( SMN1 ). Its centromeric copy gene, SMN2 , major modifying factor. However, genotype–phenotype correlation incomplete and therefore not useful in clinical practice. We studied a cohort 103 patients order to refine this correlation. In addition standard disease severity data, we collected three additional criteria: age at death; brainstem...
Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated usually involving the tibia. Previous published data reported several unrelated patients 17p13.3 duplication and SHFLD. Recently, minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are this limb defect. Here, we report on 13 new families presenting ectrodactyly harboring duplication.
Waardenburg syndrome (WS) is characterized by an association of pigmentation abnormalities and sensorineural hearing loss. Four types, defined on clinical grounds, have been delineated, but this phenotypic classification correlates imperfectly with known molecular anomalies. SOX10 mutations found in patients type II IV WS (i.e., Hirschsprung disease), more complex syndromes, partial forms the disease. The phenotype induced highly variable and, except for neurological disease, no...