Wiedemann-Steiner Syndrome with Variants of Uncertain Significance in Spermatogenesis Associated 5 and Lysine Methyltransferase 2A GenesG. Shilpa ReddyShehnaz SultanaSujatha MadireddyPratibha NallariVenkateshwari Ananthapur
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 ...
We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS). Utilizing a whole-exome sequencing approach, we identified de novo mutations ...
de novo mutationKMT2Awhole exome sequencingWiedemann‐Steiner syndromeBackground Wiedemann㏒teiner Syndrome (WSS) is an autosomal dominant genetic condition caused by mutations in the KMT2A gene. Lysine methyltransferase, encoded by KMT2A, plays critical roles in the regulation of gene expression ...
This finding contrasts with that for some patients with Beckwith–Wiedemann syndrome, in whom IGF2 is overexpressed, causing increased growth. For that reason, patients with Russell–Silver syndrome do not have a significantly increased risk of neoplasia compared with patients with Beckwith–Wiedemann ...
KMT2A (MLL) H3K4me2/3 Wiedemann–Steiner syndrome KMT2C (MLL3) H3K4me2/3 Intellectual disability KMT2D (MLL4) H3K4me2/3 Kabuki syndrome KDM6A (UTX) Removal of H3K27me2/3 Kabuki syndrome NSD1 NSD1 H3K36me Sotos syndrome SETD2 SETD2 H3K36me Luscan–Lumish syndrome List of histone...
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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.###De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified ...
Whole exome sequencing revealedKMT2A-associated Wiedemann-Steiner ... DJ Bogaert,M Dullaers,HS Kuehn,... - 《Scientific Reports》 被引量: 2发表: 2017年 Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation Bartter syndrome encompasses a ...
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