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Adducted thumbs: A clinical clue to genetic diagnosis
Verhagen, J.M.A.; Schrander-Stumpel, C.T.R.M.; Blezer, M.M.J.; Weber, J.W.; Schrander, J.J.P.; Rubio-Gozalbo, M.E.; ... ; Frints, S.G.M. 2013
Adducted thumbs: A clinical clue to genetic diagnosis
Article / Letter to editor
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Adducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e.g. the L1 syndrome. A retrospective survey was performed including patients... Show moreAdducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e.g. the L1 syndrome. A retrospective survey was performed including patients with adducted thumbs referred to the Department of Clinical Genetics between 1985 and 2011 by perinatologists, (child) neurologists or paediatricians, in order to evaluate current knowledge on the genetic etiology of adducted thumbs. Twenty-five patients were included in this survey. Additional features were observed in 88% (22/25). In 25% (4/16) of the patients with adducted thumbs and congenital hydrocephalus L1CAM gene mutations were identified. One patient had a mosaic 5p13 duplication. Recommendations are made concerning the evaluation and genetic workup of patients with adducted thumbs. Show less
Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood
Klaassens, M.; Reinstein, E.; Hilhorst-Hofstee, Y.; Schrander, J.J.P.; Malfait, F.; Staal, H.; ... ; Schrander-Stumpel, C.T.R.M. 2012
Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood
Article / Letter to editor
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MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome
Paulussen, A.D.C.; Stegmann, A.P.A.; Blok, M.J.; Tserpelis, D.; Posma-Velter, C.; Detisch, Y.; ... ; Schrander-Stumpel, C.T.R.M. 2011
MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome
Article / Letter to editor
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MLL2 mutation spectrum in 45 patients with Kabuki syndrome
Paulussen, A.D.C.; Stegmann, A.P.A.; Blok, M.J.; Tserpelis, D.; Posma-Velter, C.; Detisch, Y.; ... ; Schrander-Stumpel, C.T.R.M. 2010
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
Article / Letter to editor
metadata only
Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by... Show moreKabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 histone methyl transferase which acts as an epigenetic transcriptional activator during growth and development. Direct sequencing of all 54 exons of the MLL2 gene in 45 clinically well-defined KS patients identified 34 (75.6%) different mutations. One mutation has been described previously, all others are novel. Clinically, all KS patients were sporadic, and mutations were de novo for all 27 families for which both parents were available. We detected nonsense (n=11), frameshift (n=17), splice site (n=4) and missense (n=2) mutations, predicting a high frequency of absent or non-functional MLL2 protein. Interestingly, both missense mutations located in the C-terminal conserved functional domains of the protein. Phenotypically our study indicated a statistically significant difference in the presence of a distinct facial appearance (p=0.0143) and growth retardation (p=0.0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation. Our data double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS.© 2010 Wiley-Liss, Inc. PMID: 21280141 [PubMed - in process] Show less