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Autosomal recessive cutis laxa syndrome revisited.
Morava E, Guillard M, Lefeber DJ, Wevers RA. Morava E, et al. Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401719 Free PMC article. Review.
The variable presence of protein glycosylation abnormalities in the diverse clinical forms of the wrinkled skin-cutis laxa syndrome spectrum necessitates revisiting the diagnostic criteria to be able to offer adequate prognosis assessment and counseling. This paper aims at …
The variable presence of protein glycosylation abnormalities in the diverse clinical forms of the wrinkled skin-cutis laxa syndrome spectrum …
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Dimopoulou A, et al. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. Mol Genet Metab. 2013. PMID: 24035636
Corneal clouding or cataracts, athetoid movements, and finger contractures were rather rare features, but had a high predictive value. In our cohort we identified 20 different PYCR1 mutations of which seven were novel. ...Analysis of genotype-phenotype correlation revealed …
Corneal clouding or cataracts, athetoid movements, and finger contractures were rather rare features, but had a high predictive value …
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP. Skidmore DL, et al. Am J Med Genet A. 2011 Aug;155A(8):1848-56. doi: 10.1002/ajmg.a.34057. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739576
The proband was homozygous for a mutation in ALDH18A1, c.1923 + 1G > A which results in the production of two anomalous transcripts that are predicted to encode proteins lacking the catalytic site for the enzyme. ...
The proband was homozygous for a mutation in ALDH18A1, c.1923 + 1G > A which results in the production of two anomalous transcripts that …