Triplication of 8p22–8p23 in a patient with features similar to Kabuki syndrome

Abstract

Kabuki syndrome (KS) comprises multiple congenital anomalies and distinctive facial appearance. Although a number of chromosome abnormalities have been described in patients with KS-like phenotypes, no consensus has been reached regarding the genetic basis underlying the classic Kabuki phenotype. A recent study reported on 8p22-8p23.1 duplication in patients diagnosed with KS; however, a number of other studies have not found this duplication in patients with classic KS. We report on a girl with triplication of 8p22-8p23 who has mental retardation and some features suggestive of KS, including growth retardation, left-sided obstructive heart lesion, long-appearing palpebral fissures, hypertelorism, sparse lateral eyebrows, prominent ears, and persistent fetal fingertip pads. She does not have the typical facial gestalt of KS, nor does she have other more specific findings of KS. We propose that abnormal copy number of genes in the 8p22-8p23 region results in a syndrome of multiple congenital anomalies with many features that overlap with classic KS. However, data from this patient and others with similar duplications in the literature suggest that duplication or triplication of 8p22-8p23 represents a recognizable pattern of malformation distinct from classic KS. The exact genetic abnormality underlying KS currently remains unknown.

Extraintestinal manifestations of celiac disease: 33‐mer gliadin binding to glutamate receptor GRINA as a new explanation

“…PUF60 is located on the 8q24.3 chromosome, the same as GRINA. A deletion of 8q24 has been reported in Verheij syndrome , while duplication or triplication of 8p22–8p23 have been found in patients with Kabuki syndrome . This supports the notion that common genes are altered in CD and these syndromes.…”

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

“…Their proband was referred for pulmonary stenosis, mild facial dysmorphisms, and mild language delay. Shieh et al [2006] reported a 8p22p23 triplication, poorly defined at the molecular level, that might be the same as that of our dup trp cases, although the cytogenetic images suggest a larger rearrangement. Their proband was referred for severe psychomotor delay and a phenotype recalling the Kabuki syndrome.…”

Congenital heart defects in Kabuki syndrome

“…Totally 76 cases of KS were reported to be associated with congenital heart defects by 19 reports [6,7,[9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25]. Of them, the gender was expressed in 37 patients including 17 males and 20 females with a male-to-female ratio of 0.85:1.…”