A case of Kabuki make‐up syndrome with EBV+ Burkitt's lymphoma

Ijichi, Osamu; Kawakami, Kiyoshi; Matsuda, Yukihisa; Ikarimoto, Naoaki; Miyata, Koichiro; Takamatsu, Hideo; Tokunaga, Masayoshi

doi:10.1111/j.1442-200x.1996.tb03439.x

Cited by 26 publications

(24 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although somatic truncating mutations in KMT2D have been implicated in childhood medulloblastoma and are frequently present in non‐Hodgkin lymphoma , no clear association has yet been established between KS and an increased risk for cancer. Cancer has been reported in seven individuals with KS: two suffered from neuroblastoma, one presented with hepatoblastoma, one developed low‐grade fibromyxoid sarcoma, one had acute lymphocytic leukemia, another EBV‐positive Burkitt's lymphoma and one was diagnosed with synovial sarcoma . The KMT2D mutation status of these reported patients is unknown.…”

Section: Clinical Featuresmentioning

confidence: 99%

Unmasking Kabuki syndrome

2013

View full text Add to dashboard Cite

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 have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on KS, provide genotype-phenotype correlations and propose a strategic clinical and molecular diagnostic approach for patients with suspected KS.

show abstract

Section: Clinical Featuresmentioning

confidence: 99%

Unmasking Kabuki syndrome

2013

View full text Add to dashboard Cite

show abstract

“…Until now, 6 Kabuki patients have been described that developed different types of cancer including pre-B-ALL, 70 hepatoblastoma, 71 neuroblastoma, 71 , 72 Burkitt lymphoma, 73 and fibromyxoid sarcoma 74 marking the Kabuki syndrome as a cancer predisposition syndrome.…”

Section: Constitutional Utx Defects Cause the Kabuki Syndromementioning

confidence: 99%

The H3K27me3 demethylase UTX in normal development and disease

2014

View full text Add to dashboard Cite

In 2007, the Ubiquitously Transcribed Tetratricopeptide Repeat on chromosome X (UTX) was identified as a histone demethylase that specifically targets di- and tri-methyl groups on lysine 27 of histone H3 (H3K27me2/3). Since then, UTX has been proven essential during normal development, as it is critically required for correct reprogramming, embryonic development and tissue-specific differentiation. UTX is a member of the MLL2 H3K4 methyltransferase complex and its catalytic activity has been linked to regulation of HOX and RB transcriptional networks. In addition, an H3K27me2/3 demethylase independent function for UTX was uncovered in promoting general chromatin remodeling in concert with the BRG1-containing SWI/SNF remodeling complex. Constitutional inactivation of UTX causes a specific hereditary disorder called the Kabuki syndrome, whereas somatic loss of UTX has been reported in a variety of human cancers. Here, we compile the breakthrough discoveries made from the first disclosure of UTX as a histone demethylase till the identification of disease-related UTX mutations and specific UTX inhibitors.

show abstract

“…[1994] (Niikawa et al, 1988;Handa et al, 1991), three by Ikegawa et al [1993], two by Ho and Eaves [1997], and single cases by Kadotani et al [1984], Iwama et al [1987], Kawada et al [1990], Matsumura et al [1992], Tawa et al [1994], Wang et al [1994], Watanabe et al [1994], Ijichi et al [1996], Kobayashi and Sakuragawa [1996], McGinniss et al [1997]. Italic numbers in columns denote significant differences between NKS or non-NKS, Asian, or non-Asian patients as discussed in the text.…”

Section: Clinical Reportsmentioning

confidence: 99%

Thirteen cases of Niikawa-Kuroki Syndrome: Report and review with emphasis on medical complications and preventive management

Wilson

1998

Am. J. Med. Genet.

View full text Add to dashboard Cite

Eight new and five previously illustrated patients with Niikawa-Kuroki syndrome (NKS) are compared to those in the literature, providing data on 183 cases. Eight patients had disproportionate microcephaly and in one autopsied patient there was frontal lobe atrophy, focal polymicrogyria, and a hypoplastic fourth ventricle. The metacarpophalangeal pattern profiles of three Caucasian patients with NKS were similar to that of a prior case report, but those of two Hispanic patients were more variable. NKS was eliminated by follow-up in nine suspect cases, highlighting the diagnostic value of findings such as arched eyebrows, long palpebral fissures, flat nasal tip, and prominent finger pads. One patient suspected of having NKS had a very different metacarpophalangeal pattern profile, supporting its diagnostic utility in selected cases. Higher frequencies of neonatal complications, abnormal dentition, hypotonia, and microcephaly were noted in non-Asian patients with NKS, while a higher frequency of skeletal anomalies was seen in Japanese patients. Complications affecting cognitive, visual, hearing, cardiac, renal, skeletal, immune, and endocrinologic functions are translated into a program for preventive management. X chromosome anomalies are the most compelling of diverse genetic changes seen in NKS, and this report adds another case to several possible instances of vertical transmission. The 108 non-Asian patients now reported emphasize the worldwide significance of NKS recognition.

show abstract

A case of Kabuki make‐up syndrome with EBV+ Burkitt's lymphoma

Cited by 26 publications

References 7 publications

Unmasking Kabuki syndrome

Unmasking Kabuki syndrome

The H3K27me3 demethylase UTX in normal development and disease

Thirteen cases of Niikawa-Kuroki Syndrome: Report and review with emphasis on medical complications and preventive management

Contact Info

Product

Resources

About