A c.1019A &gt; G mutation in <i>FGFR2</i>, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

Baynam, Gareth; Smith, Nicholas M.; Goldblatt, Jack

doi:10.1002/ajmg.a.32443

Cited by 9 publications

(3 citation statements)

References 19 publications

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“…One fetus in our series carried the p.S351C mutation and presented with a cartilaginous tracheal sleeve; sacrococcygeal inversion was not found but minor caudal anomalies such as sacral dimple and pilonidal cyst were present. The p.Y340C mutation phenotype is less well characterized but is known to be associated with multiple pterygia [Baynam et al, 2008]. Three fetuses in our series carried the p.Y340C mutation and Fetus 3 presented with small pterygia, which could not nevertheless be formally differentiated from secondary pterygia due to fetal immobility.…”

Section: Discussionmentioning

confidence: 68%

Mechanical, thermal, and biodegradation studies of polystyrene–phthalated starch blends using epoxy functionalized compatibilizer

Ashamol

Sailaja

2011

J of Applied Polymer Sci

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Blends of polystyrene (PS) and esterified starch has been prepared using an epoxy functionalized PS as compatibilizer along with zinc stearate as prooxidant. The starch phthalate (Stph) loading was varied from 20 to 60%. The mechanical, thermal, and biodegradability studies of the blends were carried out as per the ASTM standards and the results were compared with that of neat PS. The blends exhibited enhanced mechanical properties with the addition of compatibilizer although the biodegradation rate slows down. The blend containing 40% starch ester with 12% compatibilizer showed maximum tensile strength. Thermogravimetric and differential scanning colorimetric analyses has been done for the blends, and the neat PS and the glass transition temperature of the blend has been obtained at 327 K. The water absorbency of the blends showed an increase with the increase in loading of Stph and a reduction with the addition of compatibilizer. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012

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Section: Discussionmentioning

confidence: 68%

Mechanical, thermal, and biodegradation studies of polystyrene–phthalated starch blends using epoxy functionalized compatibilizer

Ashamol

Sailaja

2011

J of Applied Polymer Sci

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Section: Phenotype-genotype Correlationsmentioning

confidence: 89%

Central nervous system malformations and deformations in FGFR2‐related craniosynostosis

Khonsari

Delezoïde

Kang

et al. 2012

American J of Med Genetics Pt A

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Central nervous system anomalies in Pfeiffer syndrome (PS) due to mutations in the FGFR2 gene are poorly understood, even though PS is often associated with serious cognitive impairment. The aim of this study is to describe the neuropathological phenotype in PS. We present four severe fetal cases of sporadic PS with FGFR2 mutations who underwent termination followed by fetopathological and neuropathological examination. We studied the expression pattern of Fgfr2 in the mouse brain using radioactive fluorescence in situ hybridization. PS is associated with brain deformations due to the abnormal skull shape, but FGFR2 mutations also induce specific brain developmental anomalies: megalencephaly, midline disorders, amygdala, and hippocampus malformations, and ventricular wall alterations. The expression pattern of Fgfr2 in mice matches the distribution of malformations in humans. The brain anomalies in PS result from the combination of mechanical deformations and intrinsic developmental disorders due to FGFR2 hyperactivity. Several similarities are noted between these anomalies and the brain lesions observed in other syndromes due to mutations in FGF-receptor genes. The specific involvement of the hippocampus and the amygdala should encourage the precise cognitive screening of patients with mild forms of PS.

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“…FGFR2 (MIM 176943) gain of function mutations cause craniosynostosis syndromes, which can manifest limb anomalies including pterygia 30. A fetus with features consistent with fetal akinesia, including multiple pterygia, with an FGFR2 c.1019A>G, p.Y340C mutation has been reported 92. There were additional dysmorphic and skeletal findings consistent with an FGFR-2 related craniosynostosis.…”

Section: Fetal Akinesia Associated With Other Genesmentioning

confidence: 97%

Fetal akinesia: review of the genetics of the neuromuscular causes

Ravenscroft

Sollis

Charles

et al. 2011

Journal of Medical Genetics

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Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Fetal akinesias may be caused by defects at any point along the motor system pathway including the central and peripheral nervous system, the neuromuscular junction and the muscle, as well as by restrictive dermopathy or external restriction of the fetus in utero. The fetal akinesias are clinically and genetically heterogeneous, with causative mutations identified to date in a large number of genes encoding disparate parts of the motor system. However, for most patients, the molecular cause remains unidentified. One reason for this is because the tools are only now becoming available to efficiently and affordably identify mutations in a large panel of disease genes. Next-generation sequencing offers the promise, if sufficient cohorts of patients can be assembled, to identify the majority of the remaining genes on a research basis and facilitate efficient clinical molecular diagnosis. The benefits of identifying the causative mutation(s) for each individual patient or family include accurate genetic counselling and the options of prenatal diagnosis or preimplantation genetic diagnosis. In this review, we summarise known single-gene disorders affecting the spinal cord, peripheral nerves, neuromuscular junction or skeletal muscles that result in fetal akinesia. This audit of these known molecular and pathophysiological mechanisms involved in fetal akinesia provides a basis for improved molecular diagnosis and completing disease gene discovery.

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A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

Cited by 9 publications

References 19 publications

Mechanical, thermal, and biodegradation studies of polystyrene–phthalated starch blends using epoxy functionalized compatibilizer

Mechanical, thermal, and biodegradation studies of polystyrene–phthalated starch blends using epoxy functionalized compatibilizer

Central nervous system malformations and deformations in FGFR2‐related craniosynostosis

Fetal akinesia: review of the genetics of the neuromuscular causes

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