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D. Primrose (2008)
A slowly progressive degenerative condition characterized by mental deficiency, wasting of limb musculature and bone abnormalities, including ossification of the pinnae.Journal of mental deficiency research, 26 (Pt 2)
R. Posmyk, R. Leśniewicz, M. Chorąży, S. Wołczyński (2011)
New case of Primrose syndrome with mild intellectual disabilityAmerican Journal of Medical Genetics Part A, 155
D. Carvalho, C. Speck-Martins (2011)
Additional features of unique Primrose syndrome phenotypeAmerican Journal of Medical Genetics Part A, 155
C. Battisti, M. Dotti, A. Cerase, A. Rufa, F. Sicurelli, C. Scarpini, A. Federico (2002)
The Primrose syndrome with progressive neurological involvement and cerebral calcificationJournal of Neurology, 249
R. Collacott, B. O'malley, I. Young (2008)
The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: report of a second case.Journal of mental deficiency research, 30 ( Pt 3)
F. Chatonnet, R. Guyot, G. Benoit, F. Flamant (2013)
Genome-wide analysis of thyroid hormone receptors shared and specific functions in neural cellsProceedings of the National Academy of Sciences, 110
N. Lindor, Hoffman Ad, Primrose Da (1996)
A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: 'Primrose syndrome'Clinical Dysmorphology, 5
I. Mathijssen, Jos Velde, R. Hennekam (2006)
Testicular cancer in a patient with Primrose syndrome.European journal of medical genetics, 49 2
Geoffroy (2015)
VaRank: A simple and powerful tool for ranking genetic variantsPeerJ, 3
J. Muller, Véronique Geoffroy, C. Pizot, C. Redin, A. Piton, N. Vasli, C. Stoetzel, André Blavier, J. Laporte
Distributed under Creative Commons Cc-by 4.0 Varank: a Simple and Powerful Tool for Ranking Genetic Variants
P. Dalal, Nancy Leslie, N. Lindor, Donald Gilbert, A. Espay (2010)
MOTOR TICS, STEREOTYPIES, AND SELF-FLAGELLATION IN PRIMROSE SYNDROMENeurology, 75
C. Redin, B. Gérard, Julia Lauer, Y. Herenger, J. Muller, Angélique Quartier, A. Masurel‐Paulet, M. Willems, G. Lesca, Salima El-Chehadeh, S. Gras, S. Vicaire, Muriel Philipps, Michael Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Y. Alembik, M. Barth, D. Bonneau, E. Colin, H. Dollfus, B. Doray, M. Delrue, V. Drouin‐Garraud, E. Flori, M. Fradin, C. Francannet, A. Goldenberg, S. Lumbroso, M. Mathieu-Dramard, D. Martin‐Coignard, D. Lacombe, G. Morin, A. Polge, S. Sukno, C. Thauvin-Robinet, J. Thevenon, M. Doco‐Fenzy, D. Geneviève, P. Sarda, P. Edery, B. Isidor, B. Jost, L. Olivier-Faivre, J. Mandel, A. Piton (2014)
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingJournal of Medical Genetics, 51
V. Cordeddu, B. Redeker, E. Stellacci, A. Jongejan, A. Fragale, Ted Bradley, Massimiliano Anselmi, A. Ciolfi, S. Cecchetti, V. Muto, L. Bernardini, Meron Azage, D. Carvalho, A. Espay, Alison Male, A. Molin, R. Posmyk, C. Battisti, A. Casertano, D. Melis, A. Kampen, F. Baas, M. Mannens, G. Bocchinfuso, L. Stella, M. Tartaglia, R. Hennekam (2014)
Mutations in ZBTB20 cause Primrose syndromeNature Genetics, 46
The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. A variety of neurological signs and symptoms have been reported including hearing loss, autism, behavioral abormalities, hypotonia, cerebral calcifications, and hypoplasia of the corpus callosum. Recently, heterozygous de novo missense mutations in ZBTB20, coding for a zing finger protein, have been identified in Primrose syndrome patients. We report a boy with intellectual disability carrying two de novo missense mutations in the last exon of ZBTB20 (Ser616Phe and Gly741Arg; both previously unreported). One of them, Ser616Phe, affects an amino acid located in one of the C2H2 zing‐fingers involved in DNA‐binding and close to other missense mutations already described. Reverse phenotyping showed that this patient presents with classic features of Primrose syndrome (dysmorphic facies, macrocephaly, hearing loss, hypotonia, hypoplasia of the corpus callosum) and, in addition, congenital hypothyroidism. Review of the literature reveals another Primrose syndrome patient with hypothyroidism and thus, this may represent an under recognized component that should be investigated in other patients. © 2016 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Jun 1, 2016
Keywords: ; ; ;
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