Apert syndrome and fetal hydrocephaly

Kim, Hyon; Uppal, Vijay; Wallach, Rony

doi:10.1007/bf00292674

Cited by 26 publications

(13 citation statements)

References 2 publications

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“…It is clinically characterized by premature fusion of coronal sutures, craniofacial anomalies and digital syndactyly [Kim et al, 1986;Carinci et al, 2005]. The vast majority of Apert syndrome patients have one of two common heterozygous missense FGFR2 mutations, p.S252W or p.P253R, both found in exon 7 [Lajeunie et al, 1999;Oldridge et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells

Lu¹,

Huguley²,

Cui³

et al. 2015

Cells Tissues Organs

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The Apert syndrome is a rare congenital disorder most often arising from S252W or P253R mutations in fibroblast growth factor receptor (FGFR2). Numerous studies have focused on the regulatory role of Apert FGFR2 signaling in bone formation, whereas its functional role in tooth development is largely unknown. To investigate the role of FGFR signaling in cell proliferation and odontogenic differentiation of human dental cells in vitro, we isolated dental pulp and enamel organ epithelia (EOE) tissues from an Apert patient carrying the S252W FGFR2 mutation. Apert primary pulp and EOE cells were established and shown to exhibit normal morphology and express alkaline phosphatase under differentiation conditions. Similar to control cells, Apert dental pulp and EOE cells expressed all FGFRs, with highest levels of FGFR1 followed by FGFR2 and low levels of FGFR3 and FGFR4. However, Apert cells had increased cell growth compared with control cells. Distinct from previous findings in osteoblast cells, gain-of-function S252W FGFR2 mutation did not upregulate the expression of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor (PDGFRα), but elevated extracellular signal-regulated kinase (ERK) signaling in cells after EGF stimulation. Unexpectedly, there was little effect of the S252W mutation on odontogenic gene expression in dental pulp and EOE cells. However, after inhibition of total FGFR signaling or ERK signaling, the expression of odontogenic genes was upregulated in both dental cell types, indicating the negative effect of whole FGFR signaling on odontogenic differentiation. This study provides novel insights on FGFR signaling and a common Apert FGFR2 mutation in the regulation of odontogenic differentiation of dental mesenchymal and epithelial cells.

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Section: Introductionmentioning

confidence: 99%

Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells

Lu¹,

Huguley²,

Cui³

et al. 2015

Cells Tissues Organs

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“…This is probably why in the absence of a family history most prenatal diagnoses of Apert syndrome reported so far were made in the third trimester [5][6][7]. Our case illustrates that it may be difficult even to suspect the diagnosis of Apert syndrome until the third trimester.…”

Section: Discussionmentioning

confidence: 79%

“…In 1982, the first prenatal diagnosis of Apert syndrome was made in an affected mother in whom fetoscopy demonstrated cupped fetal fingers [9]. The sonographic diagnosis of Apert syndrome, made during the third trimester, was first reported in 1986 [6] and further cases have been published subse- quently. In most of these diagnoses the sonographic detection of fetal abnormalities of the skull and/or of the fingers are not difficult to interpret as a recurrence of the disease because of a family history.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

Michelet¹,

Sonigo

Amiel

et al. 2000

Fetal Diagn Ther

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Apert syndrome is characterized by coronal craniosynostosis, midfacial hypoplasia, symmetrical syndactyly of the hands and feet described as ‘mitten-like’ with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor-2 (FGFR2) gene. In the absence of a family history, prenatal diagnosis may be difficult based on sonography alone. We report a case in which the prenatal diagnosis of Apert syndrome was suspected by ultrasonography, established by three-dimensional computed tomography scan (3DTS) and confirmed by the detection of a mutation on amniotic cells. This underscores the usefulness of a sequential diagnostic approach combining 3DTS and molecular biology in cases in which sonography alone is not con- clusive.

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“…A few cases of Apert syndrome have been reported in the prenatal period by sonography, mainly in the third trimester of pregnancy [7,[10][11][12][13][14]. Early diagnosis in the second trimester has been described in affected mothers, either by fetoscopy [15] or by ultrasound [16].…”

mentioning

confidence: 99%

Contribution of Tridimensional Sonography and Magnetic Resonance Imaging to Prenatal Diagnosis of Apert Syndrome at Mid-Trimester

Boog¹,

Vaillant²,

Winer³

et al. 1999

Fetal Diagn Ther

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A diagnosis of Apert syndrome, suspected at 24 weeks’ gestation after conventional sonography showing turribrachycephaly and syndactyly of hands and feet, was confirmed at 26 weeks’ gestation by tridimensional sonography and magnetic resonance imaging. This is only the second prenatal diagnosis reported at mid-trimester, excluding cases published from affected mothers or in connection with a context of recurrence. Additional findings have been collected from tridimensional sonography (mid-facial hypoplasia, downslanting palpebral fissures) and from magnetic resonance imaging (verticalization of the clivus and flattened angle of the cranial base).

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Apert syndrome and fetal hydrocephaly

Cited by 26 publications

References 2 publications

Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells

Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells

Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

Contribution of Tridimensional Sonography and Magnetic Resonance Imaging to Prenatal Diagnosis of Apert Syndrome at Mid-Trimester

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