Citations for
1PQBP1, RENS1
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Germanaud D, Rossi M, Bussy G, Gérard D, Hertz-Pannier L, Blanchet P, Dollfus H, Giuliano F, Bennouna-Greene V, Sarda P, Sigaudy S, Curie A, Vincent MC, Touraine R, des Portes V.
Clin Genet 79(3):225-35. doi: 10.1111/j.1399-0004.2010.01551.x. Epub 2010 Oct 18. 2011
2PQBP1, RENS1, SHS
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM.
Hum Mutat 31(1):90-8.PMID: 19847789 2010
3GIHS, PQBP1, RENS1, WBP11
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson AC, Mazack V, Humbert J, Gaffney CJ, Beullens M, Schwartz CE, Landgraf C, Volkmer R, Pastore A, Farooq A, Bollen M, Sudol M.
J Biol Chem 285(25):19391-401. Epub 2010 Apr 21.PMID: 20410308 2010
4PQBP1, RENS1, SHS
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martinez-Garay I, Tomas M, Oltra S, Ramser J, Molto MD, Prieto F, Meindl A, Kutsche K, Martinez F.
Eur J Hum Genet 15(1):29-34. Epub 2006 Oct 11. 2007
5PQBP1, RENS1, SHS
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC.
Clin Genet 66(4):318-26. 2004
6MRX55, PQBP1, RENS1
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE.
Am J Hum Genet 74(4):777-80. No abstract available. 2004
7RENS1, TIMM8A
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M.
Eur J Hum Genet 8(6):464-7. 2000
8TIMM8A, RENS1
Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.
Plenge RM, et al.
Am J Hum Genet 64(3):759-67. 1999
9RENS1
Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.
Holinski-Feder E, et al.
Am J Med Genet 86(2):102-6 1999
10RENS1, TIMM8A
Human deafness dystonia syndrome is a mitochondrial disease.
Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G.
Proc Natl Acad Sci U S A 96(5):2141-6. 1999
11RENS1
Renpenning syndrome maps to Xp11.
Stevenson RE, et al.
Am J Hum Genet 62 : 1092-1101. 1998
12ADS, TIMM8A, JS, RENS1
JENSEN syndrome is allelic to MOHR-TRANEBJAERG syndrome and both are caused by stop mutations in the DDP gene. (abstr)
Tranebjaerg L, et al.
Am J Hum Genet 61 : A349. 1997
13TIMM8A, TIMM8AP, RENS1
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
Jin H, et al.
Nat Genet 14 : 177-180. 1996
14RENS1, TIMM8A
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
Tranebjaerg L, et al.
J Med Genet 32 : 257-263. 1995
15RENS1
+2.71 LOD score at zero recombination is not sufficient for establishing linkage between X-linked mental retardation and X-chromosome markers.
Robledo R, et al.
Am J Med Genet 64 : 134-136. 1994
16RENS1
Renpenning syndrome : evidence for pericentric location of the gene in two families, including the original Renpenning family.
Schwartz CE, et al.
Am J Hum Genet 53 : 1073. 1993
17RENS1
New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.
Tranebjaerg L, et al.
Am J Med Genet 43(1-2):498-504. 1992