Table of Contents

HK J Paediatr (New Series)
Vol 22. No. 3, 2017

HK J Paediatr (New Series) 2017;22:174-178

Case Report

Kabuki Syndrome: Two Cases of Taiwanese Children
歌舞伎綜合徵(Kabuki Syndrome):二例臺灣兒童患者

CY Chang


We report 2 cases of Kabuki syndrome (KS) with MLL2 gene mutation. The first patient showed c.10440+2, T>G alteration of the MLL2 gene, which is a novel mutation that is not documented in the literature. The second patient exhibited 2 heterozygous mutations: c.13606C>T mutation (in exon 40) and c.13839+89dupTGACGT (IVS41+89dupGACGT). The c.13606C>T mutation caused an amino acid change of p.Arg4536X, which has been associated with KS. However, c.13839+89dupTGACGT(IVS41+89dupGACGT) is an unknown variant or novel mutation. Both patients had typical facial features with long palpebral fissures, sparse and arched eyebrows, and large protruding ears. They also exhibited cardiac and renal problems and limb abnormality of clinodactyly with high finger pads. They both showed mental and developmental delays, which may have been due to hypotonia and the central origin. On the basis of the aforementioned symptoms, we summarised the cardinal symptoms of KS and determined the diagnostic indications for these patients.

我們此次報導二例存在 MLL2 基因突變的歌舞伎綜合徵(Kabuki syndrome,KS)患兒。第一例患兒的 MLL2 基因出現c.10440+2, T>G改變,該突變為一個新的突變,暫無文獻報導。第二例患兒為雜合突變:c.13606C>T突變(外顯子40)和 c.13839+89dupTGACGT(IVS41+89dupGACGT)突變。c.13606C>T突變導致的p.Arg4536X氨基酸改變與KS有關;而 c.13839+89dupTGACGT(IVS41+89dupGACGT)是一個意義不明的突變或新的致病突變。兩名患兒都有典型的面部特徵:長瞼裂,拱形眉伴眉毛稀疏,大招風耳。同時合併心臟、腎臟問題及小指內彎、指腹隆起等肢體畸形。他們都有精神運動發育落後,這可能與肌張力低下和中樞神經系統有關。基於上述臨床表現,我們總結了KS的主要症狀和診斷這類患者的主要指標。

Keyword : Clinodactyly; Finger pads; Kabuki syndrome (KS); Long palpebral fissures



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