Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2
نویسندگان
چکیده
منابع مشابه
Kabuki Syndrome
Disease characteristics. Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnata...
متن کاملUnmasking Kabuki syndrome.
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and ha...
متن کاملKabuki Syndrome with Cleft Palate
Kabuki syndrome is a rare condition characterized by multiple congenital anomalies and intellectual disabilities [1]. The etiology of Kabuki syndrome is unclear, but the syndrome is known to have an autosomal dominant mode of inheritance. Furthermore, mutations in the MLL2 and KDM6A genes have recently been suggested as causes of this syndrome [2]. The five major clinical manifestations of this...
متن کاملAudiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome
KS is a rare disorder discovered by Japanese doctors Norio Niikawa and Yoshikazu Kuroki in 1981. The syndrome received its name due to the resemblance of the characteristic facial features of patients to the make-up used in the traditional Japanese Kabuki play.1 Niikawa and Kuroki independently described the syndrome in a subset of ten Japanese children that were reported to have distinctive fa...
متن کاملAnesthesia for a child with Kabuki Syndrome.
SIR—Kabuki syndrome is a rare multiple malforma-tion ⁄ mental retardation syndrome. The exact cause re-mains unknown and multiple possible genetic abnormalities have been reported. Drs Niikawa and Kuroki first described the disease in 10 unrelated children in 1981 (1). The name ‘Kabuki make-up syndrome’ is from the similarities of the faces of affected children with makeup from traditional Japa...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2016
ISSN: 1059-7794
DOI: 10.1002/humu.23026