References of "Jacquinet, Adeline"
     in
Bookmark and Share    
Full Text
See detailHereditary urogenital adysplasia: families with recurrence of uterine and renal malformations.
JACQUINET, Adeline ULg; LEHMAN, Anna

Conference (2015, May 01)

In 1980, Schimke and King introduced the term hereditary urogenital adysplasia to describe recurrence of kidney and uterine malformations which had been observed in several families. They suggested an ... [more ▼]

In 1980, Schimke and King introduced the term hereditary urogenital adysplasia to describe recurrence of kidney and uterine malformations which had been observed in several families. They suggested an autosomal dominant inheritance with variable expressivity and penetrance. Now, 35 years later, research is focused towards understanding the underlying genetic causes of this condition. We review the embryonic development of Müllerian and Wolffian ducts and the genes that have been involved in uterine malformations, congenital anomalies of kidney and urinary tract and hereditary urogenital adysplasia in humans. [less ▲]

Detailed reference viewed: 15 (1 ULg)
Peer Reviewed
See detailMania following acute decompensation in ornithine transcarbamylase deficiency.
JACQUINET, Adeline ULg; SIRRS, Sandra; MATTMAN, Andre et al

Poster (2015, May)

Background Ornithine transcarbamylase deficiency is the most common urea cycle disorder and presents an X-linked pattern of inheritance. Both males and females may be affected with variation in severity ... [more ▼]

Background Ornithine transcarbamylase deficiency is the most common urea cycle disorder and presents an X-linked pattern of inheritance. Both males and females may be affected with variation in severity and age of onset. Psychiatric symptoms, including episodic psychosis, atypical depression, confusion, erratic behavior or delirium, are possible presentations of late-onset disease. Manic behaviors have previously been reported with hyperammonemia induced by valproic acid. Usually, psychiatric behaviors cease with normalization of ammonia levels. Case report We report a family with two males with confirmed late-onset OTC deficiency (and other adult males with unexplained lethal encephalopathy) due to a missense mutation in OTC (c.119G>A; p.R40H). One 29-year-old male individual, with no psychiatric history, presented hypomanic symptoms with a significant shift from his personality in the days following his first major episode of acute decompensation. Ammonia levels were measured as 245, 30, 11, 106, 20, 38 and 17 micromol/L on days 2, 5, 8, 9, 9, 9, and 10, respectively, following the acute crisis onset. Symptoms of vomiting, confusion, tremors and loss of consciousness stopped at day 5. Hypomanic symptoms were noted from day 5 and were finally controlled with long-acting quetiapine ten days after normalization of serum ammonia levels (daily levels were normal from day 10 to day 21). CT scan of the brain was normal. Conclusion Illustrated by this case report, occurrence of mania secondary to a hyperammonic crisis may be the consequence of dysregulated neurotransmission balance in brain, which can persist after normalization of serum ammonia levels. [less ▲]

Detailed reference viewed: 21 (1 ULg)
Full Text
Peer Reviewed
See detailCorrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons, Cas; Rash, Lachlan D.; Crawford, Joanna et al

in Nature genetics (2015), 47(3), 304

Detailed reference viewed: 5 (0 ULg)
Full Text
Peer Reviewed
See detailMutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons, Cas; Rash, Lachlan D.; Crawford, Joanna et al

in Nature genetics (2015), 47(1), 73-7

Temple-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toe. Here we ... [more ▼]

Temple-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toe. Here we report damaging de novo mutations in KCNH1 (encoding a protein called ether a go-go, EAG1 or KV10.1), a voltage-gated potassium channel that is predominantly expressed in the central nervous system (CNS), in six individuals with TBS. Characterization of the mutant channels in both Xenopus laevis oocytes and human HEK293T cells showed a decreased threshold of activation and delayed deactivation, demonstrating that TBS-associated KCNH1 mutations lead to deleterious gain of function. Consistent with this result, we find that two mothers of children with TBS, who have epilepsy but are otherwise healthy, are low-level (10% and 27%) mosaic carriers of pathogenic KCNH1 mutations. Consistent with recent reports, this finding demonstrates that the etiology of many unresolved CNS disorders, including epilepsies, might be explained by pathogenic mosaic mutations. [less ▲]

Detailed reference viewed: 44 (1 ULg)
Full Text
See detailCaractéristiques Cliniques Et Impact Du Syndrome De Smith-Magenis : Étude d’une série de 47 patients
JACQUINET, Adeline ULg

Master's dissertation (2014)

Le syndrome de Smith-Magenis est un syndrome délétionnel récurrent caractérisé par l’association de traits dysmorphiques, de troubles du comportement et de troubles du sommeil. Une déficience ... [more ▼]

Le syndrome de Smith-Magenis est un syndrome délétionnel récurrent caractérisé par l’association de traits dysmorphiques, de troubles du comportement et de troubles du sommeil. Une déficience intellectuelle de sévérité variable est fréquente mais non systématique. Il implique une prise en charge médicale multidisciplinaire du fait des possibles malformations associées, essentiellement cardiaques et rénales, et des éventuelles complications (scoliose, problèmes ORL, anomalies ophtalmologiques, problèmes dentaires, métaboliques et endocriniens). Dans cette étude rétrospective, nous reprenons et discutons les caractéristiques cliniques et diagnostiques d’une cohorte de 47 patients ainsi que les répercussions du syndrome en termes d’impact familial, de prise en charge et de scolarité. [less ▲]

Detailed reference viewed: 33 (3 ULg)
Full Text
Peer Reviewed
See detailNeonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet, Adeline ULg; Verloes, Alain; Callewaert, Bert et al

in European journal of medical genetics (2014), 57(5), 230-4

We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of ... [more ▼]

We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes. [less ▲]

Detailed reference viewed: 52 (9 ULg)
Peer Reviewed
See detailFemoral-facial syndrome: long term follow-up and associated array CGH abnormalities.
JACQUINET, Adeline ULg; VALDES SOCIN, Hernan Gonzalo ULg; LIBIOULLE, Cécile ULg et al

Poster (2013, October 22)

The femoral-facial syndrome is usually sporadic and its aetiology remains unknown. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise ... [more ▼]

The femoral-facial syndrome is usually sporadic and its aetiology remains unknown. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise suggested autosomal dominant inheritance. We report the 20 years clinical follow-up of a girl with femoral-facial syndrome diagnosed at birth. Recently, array CGH investigation identified a 1400 kb duplication at 9q31.1, including the gene SMC2, and a 343 kb deletion at 12q24.33 including the genes CHFR, ZNF26, ZNF140, ZNF10 and ZNF268. Moreover, the patient presents a Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed at puberty. Femoral-facial syndrome and Mullerian agenesis may reflect different defects in the primary axial mesodermal development, being the consequences of same environmental or/and genetic factors during blastogenesis. Among these genetic factors, we suggest the possible involvement of the two copy number variants reported here [less ▲]

Detailed reference viewed: 91 (13 ULg)
Peer Reviewed
See detailFemoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia.
JACQUINET, Adeline ULg; VALDES SOCIN, Hernan Gonzalo ULg; LIBIOULLE, Cécile ULg et al

Conference (2013, September)

Daentl femoral-facial syndrome (FFS) includes bilateral femoral hypoplasia and particular facial features: long philtrum with thin upper lip, micrognathia with or without cleft palate, upward-slanted ... [more ▼]

Daentl femoral-facial syndrome (FFS) includes bilateral femoral hypoplasia and particular facial features: long philtrum with thin upper lip, micrognathia with or without cleft palate, upward-slanted palpebral fissures, and hypoplastic alae nasi with a broad tip. The syndrome is clinically heterogeneous, and other malformations have been associated. Psychomotor and cognitive developments are usually normal. Etiology of this syndrome remains currently unknown. Most of the cases are sporadic. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise suggested autosomal dominant inheritance. Our patient was the first child of unrelated parents. Very short femora were detected at fourth month of pregnancy. Birth height was 40 cm at term. FFS was diagnosed at birth, based on severe bilateral femoral hypoplasia and characteristic facial features with Pierre Robin sequence. Early psychomotor development was normal and walking alone was acquired at age two despite the absence of hip joints. At age seventeen, she was investigated for primary amenorrhea and was shown to have uterine aplasia, and thus Mayer-Rokitansky-Kuster-Hauser syndrome. Endocrine workup noted hyperandrogenism due to both ovarian and adrenal androgen overproduction. Recently, array CGH investigation identified a 1485 kb duplication at 9q31.1, including the gene SMC2, and a 853 kb deletion at 12q24.33 including the genes P2RX2, PEGAM5, GOLGA3, POLE1, CHFR, ZNF26, ZNF140, ZNF10 and ZNF268. Unfortunately, samples of parents were not available. Long term follow up of our patient underlined orthopedic problems as the major handicap in the FFS syndrome, cognitive development being normal. Unexpected discover was the association with mullerian agenesis. Both may reflect different defects in the primary axial mesodermal development, being the consequences of same environmental or/and genetic factors during blastogenesis. Among these genetic factors, we suggest the possible involvement of the two copy number variants reported here. Reports of other patients would be required to confirm this. [less ▲]

Detailed reference viewed: 5 (1 ULg)
Peer Reviewed
See detailIntellectual disability and cancer susceptibility in a family with inherited 14q32.13q32.2 deletion.
JACQUINET, Adeline ULg; CABERG, Jean-Hubert ULg; BOURS, Vincent ULg et al

Poster (2013, June)

Located in 14q32.13, DICER1 codes for an RNase III endoribonuclease essential in the processing of microRNAs. These microRNAs are functional non-coding RNAs that regulate gene expression at a post ... [more ▼]

Located in 14q32.13, DICER1 codes for an RNase III endoribonuclease essential in the processing of microRNAs. These microRNAs are functional non-coding RNAs that regulate gene expression at a post-transcriptional level by interfering with translation and degradation of target messenger RNAs. Their deregulations have been implicated in several human diseases and cancers. Germline mutations in DICER1 are associated with a low susceptibility risk to tumor development. Inactivating mutations have been identified in patients and families with various benign and malignant tumors, especially pleuropulmonary blastoma, cystic nephroma and ovarian Sertoli-Leydig tumors. Germline DICER1 deletion has not been reported so far. We report a 7-year-old girl with an inherited DICER1 deletion. She was referred for mild intellectual deficiency, a medical history of cystic nephroma and dysmorphic features. Her father, two paternal uncles and the paternal grandmother had mild to moderate intellectual disabilities. The deceased grandmother had presented uterin and ovarian tumors. Array-CGH analysis identified a 5041kb deletion in 14q32.13-q32.2 in the patient, the father, the two uncles and the paternal grandmother. The deletion contained 50 coding genes and led to DICER 1 haploinsufficiency which was responsible for cancer susceptibility. Moreover, transmission of the deletion was related to intellectual disability in this family. The 14q32.13q32.2 locus has been previously associated with autosomal recessive mental retardation, suggesting the presence in the region of genes implicated in cerebral development and cognitive functions. [less ▲]

Detailed reference viewed: 14 (1 ULg)
Full Text
Peer Reviewed
See detailPhenotypic Spectrum of Simpson–Golabi– Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
COTTEREAU,, Edouard; MORTEMOUSQUE, Isabelle; MOIZARD, Marie-Pierre et al

in American Journal of Medical Genetics. Part C, Seminars in Medical Genetics (2013), 163C(2), 92-105

Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked multiple congenital abnormality/intellectual disability syndrome characterized by pre‐ and post‐natal overgrowth, distinctive craniofacial features ... [more ▼]

Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked multiple congenital abnormality/intellectual disability syndrome characterized by pre‐ and post‐natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency. In 1996, Glypican 3 (GPC3) was identified as the major gene causing SGBS but the mutation detection rate was only 28–70%, suggesting either genetic heterogeneity or that some patients could have alternative diagnoses. This was particularly suggested by some reports of atypical cases with more severe prognoses. In the family reported by Golabi and Rosen, a duplication of GPC4 was recently identified, suggesting that GPC4 could be the second gene for SGBS but no point mutations within GPC4 have yet been reported. In the genetics laboratory in Tours Hospital, GPC3 molecular testing over more than a decade has detected pathogenic mutations in only 8.7% of individuals with SGBS. In addition, GPC4 mutations have not been identified thus raising the question of frequent misdiagnosis. In order to better delineate the phenotypic spectrum of SGBS caused by GPC3 mutations, and to try to define specific clinical criteria for GPC3 molecular testing, we reviewed the clinical features of all male cases with a GPC3 mutation identified in the two molecular laboratories providing this test in France (Tours and Paris). We present here the results of the analysis of 42 patients belonging to 31 families and including five fetuses and three deceased neonates. [less ▲]

Detailed reference viewed: 11 (1 ULg)
Full Text
Peer Reviewed
See detailMBD5 deletion: a new recurrent cause of mental retardation
JACQUINET, Adeline ULg; STEVENS, René; DEMONCEAU, Nathalie et al

Poster (2011, March)

Detailed reference viewed: 17 (2 ULg)
Full Text
Peer Reviewed
See detailType II GM1 gangliosidosis presenting as isolated psychomotor regression
JACQUINET, Adeline ULg; STEVENS, René; DEMONCEAU, Nathalie et al

Poster (2011, March)

Detailed reference viewed: 15 (2 ULg)
Full Text
Peer Reviewed
See detailTemple-Baraitser syndrome: a rare and possibly unrecognized condition.
Jacquinet, Adeline ULg; Gerard, Marion; Gabbett, Michael T et al

in American Journal of Medical Genetics. Part A (2010), 152A(9), 2322-6

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients ... [more ▼]

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene. [less ▲]

Detailed reference viewed: 60 (4 ULg)