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Renpenning syndrome in a female.
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study; Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Cho RY, et al. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840929
Renpenning syndrome (OMIM: 309500) is a rare X-linked disorder that causes intellectual disability, microcephaly, short stature, a variety of eye anomalies, and characteristic craniofacial features. This condition results from pathogenic variation of PQBP1, a polygl …
Renpenning syndrome (OMIM: 309500) is a rare X-linked disorder that causes intellectual disability, microcephaly, short statur …
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation.
Proops R, Webb T. Proops R, et al. J Med Genet. 1981 Oct;18(5):366-73. doi: 10.1136/jmg.18.5.366. J Med Genet. 1981. PMID: 7328617 Free PMC article.
All subjects with REnpenning syndrome carried a fragile Xq27-28 chromosome in more than 4% of their blood lymphocytes. ...A female age effect was observed and one possible carrier of Renpenning syndrome exhibited the fragile X in 10% of her lymp …
All subjects with REnpenning syndrome carried a fragile Xq27-28 chromosome in more than 4% of their blood lymphocytes. ...A fe …
Renpenning syndrome maps to Xp11.
Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. Stevenson RE, et al. Am J Hum Genet. 1998 May;62(5):1092-101. doi: 10.1086/301835. Am J Hum Genet. 1998. PMID: 9545405 Free PMC article.
Carrier females do not show heterozygote manifestations. The syndrome maps to Xp11.2-p11.4, with a maximum LOD score of 3.21 (recombination fraction 0) for markers between DXS1039 and DXS1068. Renpenning syndrome (also known as "MRXS8"; gene RENS1, MIM 309500 …
Carrier females do not show heterozygote manifestations. The syndrome maps to Xp11.2-p11.4, with a maximum LOD score of 3.21 (recombi …
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31.
Shrimpton AE, Daly KM, Hoo JJ. Shrimpton AE, et al. Am J Med Genet. 1999 May 28;84(3):293-9. Am J Med Genet. 1999. PMID: 10331611
Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and short stature, clinically resembling Renpenning syndrome but with normal size of testicles in affected men. ...Nine affected and four unaffe …
Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and short stature, …
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. Kleefstra T, et al. Clin Genet. 2004 Oct;66(4):318-26. doi: 10.1111/j.1399-0004.2004.00308.x. Clin Genet. 2004. PMID: 15355434
Additionally, the features were compared to those reported in the literature of three other families, comprising MRXS3 (Sutherland-Haan syndrome) MRX55 and MRXS8 (Renpenning syndrome). Characteristics seen in these patients are microcephaly, lean body habitus, short …
Additionally, the features were compared to those reported in the literature of three other families, comprising MRXS3 (Sutherland-Haan synd …