Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. Clin Genet. 2015 Mar 25; Authors: Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Jane Brown N, Yang Tan T, Jia Jiunn Yap P, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N Abstract Wiedemann-Steiner syndrome (WSS) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. WSS is caused by heterozygous mutations in KMT2A (also known as MLL), a gene encoding a histone methyltransferase. Here, we identify six novel KMT2A mutations in six WSS patients, with four mutations occurring de novo. Interestingly, some of the patients were initially diagnosed with atypical Kabuki syndrome, which is caused by mutations in KMT2D or KDM6A, genes also involved in histone methylation. KMT2A mutations and clinical features are summarized in our six patients together with eight previously reported patients. Furthermore, clinical comparison of the two syndromes is discussed in detail. PMID: 25810209 [PubMed - as supplied by publisher]
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Genetics in Medicine, Published online: 23 March 2020; doi:10.1038/s41436-020-0784-7Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and facial characteristics. Here, the authors present the first case, to the best of the authors' knowledge, of bilateral lacrimal puncta agenesis in a patient with KS.#8232;The proband patient was a 29-year-old woman diagnosed with this syndrome, brought to our office due to recurrent conjunctivitis where agenesia of lacrimal puncta was observed. Therapeutic options were exposed but, as the concomitant medication (topiramate) produced ocular dryness, conservative treatment was decided. Diagnosis of KS is challenging because it ...
We report a successful case of mitral valve repair involving the novel option of interannular bridge for valvuloplasty to address congenital mitral regurgitation. PMID: 32119854 [PubMed - as supplied by publisher]
"RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255-260". Clin Genet. 2020 Mar;97(3):538-539 Authors: Lindsley AW PMID: 32064601 [PubMed - in process]
Genetics in Medicine, Published online: 17 January 2020; doi:10.1038/s41436-019-0743-3A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Abstract Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facies, postnatal growth deficiency, cardiac defects and skeletal anomalies. Studies have determined that pathogenic variants of the lysine-specific methyltransferase 2D (KMT2D) and lysine-specific demethylase 6A (KDM6A) genes are the major causes of KS. The two genes encode different histone-modifying enzymes that are found in the same protein complex that is critical for cell differentiation during development. Here we report the results from next-generation sequencing of genomic DNA from 13 patients who had a clinical diagn...
We present the first patient described with haploinsufficency ofKMT2D leading to Kabuki syndrome. Deletion ofKMT2D has been thought to be lethal, but here we describe a patient withKMT2D deletion and classical Kabuki syndrome phenotype.
Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D (KMT2D). Immune dysfunction is frequently observed in individuals with KS, but the role of KMT2D in immune system function has not been identified.
Capsule Summary: A Kabuki syndrome mouse model reveals fewer and smaller Peyer ’s patches and decreased Itgb7, a gene encoding a gut homing molecule, suggesting that disruption of immune gut function contributes to the Kabuki syndrome disease phenotype.