Cleft Hand in Kabuki Make-Up Syndrome: Case Report

Huh, Jung Kyu; Chung, Moon Sang; Baek, Goo Hyun; Oh, Joo Han; Lee, Young Ho; Gong, Hyun Sik

doi:10.1016/j.jhsa.2010.12.033

Cited by 9 publications

(10 citation statements)

References 29 publications

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“…The general clinical manifestations were categorized in a “five cardinal manifestations” pattern, which included typical craniofacial abnormalities, skeletal abnormalities, dermatoglyphic abnormalities, cerebral abnormalities, and postnatal growth deficiencies (Table 1 ). The percentages of patients with each symptom were compared with previous reports [ 10 ]. The typical features of the aforementioned patients are illustrated in Figure 1 .…”

Section: Resultsmentioning

confidence: 99%

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

et al. 2015

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BackgroundKabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D.MethodsWe retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents if available. We also reviewed the literature and plotted the mutation spectrum of KMT2D.ResultsThe patients generally presented with typical clinical manifestations as previously reported in other countries. Uncommon symptoms included spinal bifida and Dandy-Walker malformation. With respect to the mutations, five mutations were found in five patients, including two frameshift indels, one nonsense mutation and two missense mutations.ConclusionsThis is the first case series on Kabuki syndrome in Mainland China. Unusual symptoms, such as spinal bifida and Dandy-Walker syndrome, suggested that neurological developmental defects may accompany Kabuki syndrome. This case series helps broaden the mutation spectrum of Kabuki syndrome and adds information regarding the manifestations of Kabuki syndrome.

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Section: Resultsmentioning

confidence: 99%

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

et al. 2015

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“…SHFM has been reported to be associated with ectrodactyly‐ectodermal dysplasia‐clefting syndrome (EEC; MIM #129900), brachydactyly‐ectrodactyly with fibular aplasia or hypoplasia (MIM #113310), autosomal recessive DLX5 ‐associated SHFM, autosomal dominant DLX5 ‐associated SHFM, autosomal dominant DLX6 ‐associated SHFM, FGFR1 ‐associated congenital hypogonadotropic hypogonadism with SHFM (MIM #147950), BHLHA9 ‐associated SHFM with long‐bone deficiency (SHFMLD: MIM #119100), and autosomal recessive WNT10B ‐associated SHFM (SHFM6; MIM #225300) . A patient with Kabuki syndrome with SHFM has been reported, but molecular testing was not performed . Being associated with a number of syndromes implies that pathogenesis of SHFM involves a number of genes and these genes are likely to share the pathogenetic pathways involving in developing the central part of the hands and feet.…”

Section: Shfm‐associated Syndromesmentioning

confidence: 99%

“…Kabuki syndrome with SHFM has been reported, but molecular testing was not performed. 13 Being associated with a number of syndromes implies that pathogenesis of SHFM involves a number of genes and these genes are likely to share the pathogenetic pathways involving in developing the central part of the hands and feet. It is important to note that "atypical" SHFM can be seen in patients affected with PORCN-associated Goltz-Gorlin or cohesin complex-associated Cornelia-de Lange syndrome, but here we focus only on the WNT-TP63-DLX-associated SHFM.…”

Section: A Patient Withmentioning

confidence: 99%

Genetic regulatory pathways of split‐hand/foot malformation

Kantaputra

Carlson

2018

Clinical Genetics

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Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9. The clinical features of SHFM caused by mutations of these genes are not distinguishable. This implies that in normal situations these SHFM-associated genes share an underlying regulatory pathway that is involved in the development of the central parts of the hands and feet. The mutations in SHFM-related genes lead to dysregulation of Fgf8 in the central portion of the apical ectodermal ridge (AER) and subsequently lead to misexpression of a number of downstream target genes, failure of stratification of the AER, and thus SHFM. Syndactyly of the remaining digits is most likely the effects of dysregulation of Fgf-Bmp-Msx signaling on apoptotic cell death. Loss of digit identity in SHFM is hypothesized to be the effects of misexpression of HOX genes, abnormal SHH gradient, or the loss of balance between GLI3A and GLI3R. Disruption of canonical and non-canonical Wnt signaling is involved in the pathogenesis of SHFM. Whatever the causative genes of SHFM are, the mutations seem to lead to dysregulation of Fgf8 in AER cells of the central parts of the hands and feet and disruption of Wnt-Bmp-Fgf signaling pathways in AER.

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“…It has an estimated incidence of 1 in 32,0003) and approximately 400 cases have been reported worldwide. In Korea, in 1991, Park et al4) first reported KS patient and from 1991 to date, about 10 KS patients5-8) have been reported. However, none of these demonstrated causative genetic abnormalities.…”

Section: Introductionmentioning

confidence: 99%

A novelMLL2gene mutation in a Korean patient with Kabuki syndrome

et al. 2013

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Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2: (c.5256_5257delGA;p.Lys1753Alafs*34). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.

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Cleft Hand in Kabuki Make-Up Syndrome: Case Report

Cited by 9 publications

References 29 publications

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

Genetic regulatory pathways of split‐hand/foot malformation

A novelMLL2gene mutation in a Korean patient with Kabuki syndrome

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