Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

We present a Qatari family with two children who displayed a characteristic phenotype of congenital marked pain insensitivity with hypohidrosis and progressive aseptic destruction of joints and vertebrae resembling that of hereditary sensory and autonomic neuropathies (HSANs). The patients, aged 10...

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Veröffentlicht in:	Clinical genetics 2016-02, Vol.89 (2), p.210-216
Hauptverfasser:	Elsaid, M.F., Chalhoub, N., Kamel, H., Ehlayel, M., Ibrahim, N., Elsaid, A., Kumar, P., Khalak, H., Ilyin, V.A., Suhre, K., Abdel Aleem, A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino Acid Sequence AR-HSANs Base Sequence Child Child, Preschool congenital pain insensitivity Female Genomes Genotype & phenotype Humans IL-6 Infant Infant, Newborn Leukemia Inhibitory Factor Receptor alpha Subunit - chemistry Leukemia Inhibitory Factor Receptor alpha Subunit - genetics LIFR-altered glycosylation Magnetic Resonance Imaging Male Models, Molecular Molecular Sequence Data Mutation Mutation - genetics Pain Pain Insensitivity, Congenital - diagnostic imaging Pain Insensitivity, Congenital - genetics Pain Insensitivity, Congenital - pathology Phenotype Radiography Spine - diagnostic imaging Spine - pathology SWS
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