Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Thauvin‐Robinet, Christel; Rousseau, Thierry; Durand, C.; Laurent, Nicole; Maingueneau, C; Faivre, Laurence; Sagot, Paul; Nivelon-Chevallier, A

doi:10.1002/pd.92

Cited by 15 publications

(6 citation statements)

References 14 publications

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“…This report emphasizes the challenge with regard to genetic counseling for OFD1 patients as reported previously (Thauvin‐Robinet et al. ). Intra‐familial phenotypic variability should be emphasized for geneticists.…”

Section: Discussionsupporting

confidence: 68%

Challenges in genetic counseling because of intra‐familial phenotypic variation of oral‐facial‐digital syndrome type 1

Shimojima

Shimada

Sugawara

et al. 2013

Congenital Anomalies

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Oral-facial-digital syndrome type 1 (OFD1; MIM 311200) is characterized by multiple anomalies of the oral cavity, face and digits. We report a family with OFD1, where two female siblings and their mother shared the same mutation of the responsible gene (OFD1) c.1193_1196delAATC. Phenotypic variability was observed among them; the mother showed minimal features of OFD1, whereas her two daughters showed partial features and the full spectrum of OFD1, respectively. Thus, OFD1 was suspected only after a health check-up during pregnancy of the second patient showing fetal brain anomaly and maternal polycystic kidney. For these reasons, there was a delay in the recognition of OFD1 in this family. Patients with OFD1 show phenotypic variability, which poses challenges for genetic counseling.

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Section: Discussionsupporting

confidence: 68%

Challenges in genetic counseling because of intra‐familial phenotypic variation of oral‐facial‐digital syndrome type 1

Shimojima

Shimada

Sugawara

et al. 2013

Congenital Anomalies

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“…Because severe CNS malformations have also rarely been reported with OFD I syndrome [Doss et al, 1998; Odent et al, 1998; Thauvin‐Robinet et al, 2001], we decided to study the OFD1 gene, leading to the identification of the causal c.400_403delGAAA mutation. This mutation has previously been reported in two sporadic cases with OFD I syndrome [Prattichizzo et al, 2008; Macca and Franco, 2009]: the first patient presented with learning disabilities and the second patient had normal intellectual development.…”

Section: To the Editormentioning

confidence: 99%

Effect of porogenic solvent on the morphology, recognition and release properties of carbamazepine‐molecularly imprinted polymer nanospheres

Esfandyari-Manesh

Javanbakht

Atyabi

et al. 2011

J of Applied Polymer Sci

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This study focus on the effect of the porogenic solvent on the morphology, recognition, and drug release of carbamazepine-molecularly imprinted polymer nanospheres prepared by precipitation polymerization. The scanning electron microscopy (SEM) images and Brunauer-Emmett-Teller (BET) analysis showed that molecularly imprinted polymer (MIP) prepared by acetonitrile exhibited a regular spherical shape at the nanoscale with a high degree of monodispersity, specific surface area of 242 m 2 g À1 , and pore volume of 1 mL g À1 , while those using chloroform and toluene produced irregular polymer particles with low specific surface area and pore volume. MIP prepared by acetonitrile/chloroform (1 : 1, v/v) showed mediator texture properties compared to MIPs obtained by acetonitrile or chloroform. Results from saturation and displacement assays indicated that the imprinted nanospheres with binding capacity of 2.85 (mg CBZ/g polymer) had high specific affinity to CBZ in contrast to nonimprinted nanospheres (1.63 mg CBZ/g polymer). The imprinted nanospheres with 2.4 selectivity factor had good recognition to CBZ than analog template of oxcarbazepine. Moreover, release studies showed that 20% of loaded CBZ was released from the imprinted nanospheres within the initial 6 h, while another 80% of CBZ was released in the following 9 days.

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“…Family 1 was referred for prenatal diagnosis of porencephaly, and clinical details have been reported in detail previously. 20 The other 15 families were ascertained through the association of facial dysmorphism, oral features, and/or cerebral, renal, and digital malformations.…”

Section: Patientsmentioning

confidence: 99%

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Thauvin‐Robinet

2005

Journal of Medical Genetics

137

164

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Oral-facial-digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfamilial and intrafamilial clinical variability has been widely reported, and 18 distinct mutations have been previously reported within OFD1. A French and Belgian collaborative study collected 25 cases from 16 families. OFD1 was analysed using direct sequencing and phenotype-genotype correlation was performed using chi2 test. X inactivation studies were performed on blood lymphocytes. In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. A combination of our results with previously reported cases showed that the majority of mutations (65.5%) was located in exons 3, 8, 9, 13, and 16. There was phenotype-genotype correlation between (a) polycystic kidney disease and splice mutations; (b) mental retardation and mutations located in exons 3, 8, 9, 13, and 16; and (c) tooth abnormalities and mutations located in coiled coil domains. Comparing the phenotype of the families with a pathogenic mutation to families with absence of OFD1 mutation, polycystic kidneys and short stature were significantly more frequent in the group with no OFD1 mutation, whereas lingual hamartomas were significantly more frequent in the group with OFD1 mutation. Finally, an X inactivation study showed non-random X inactivation in a third of the samples. Differential X inactivation between mothers and daughters in two families with high intrafamilial variability was of particular interest. Slight phenotype-genotype correlations were established, and X inactivation study showed that skewed X inactivation could be partially involved in the pathogenesis of intrafamilial clinical variability.

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Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Cited by 15 publications

References 14 publications

Challenges in genetic counseling because of intra‐familial phenotypic variation of oral‐facial‐digital syndrome type 1

Challenges in genetic counseling because of intra‐familial phenotypic variation of oral‐facial‐digital syndrome type 1

Effect of porogenic solvent on the morphology, recognition and release properties of carbamazepine‐molecularly imprinted polymer nanospheres

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

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