Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression.
Kabuki make-up syndrome (Niikawa-Kuroki syndrome) is a rare congenital disorder of unknown etiology characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatologic patterns. The latter include long palpebral fissures, broad eye brows sparse in the lateral half, prominent eyelashes, lower lateral palpebral ertropia, and depressed nasal tips. We describe a 13-year-old girl with short stature, delayed puberty, mental retardation, and typical face characteristics of Kabuki make-up syndrome. High-resolution banding chromosome analysis revealed a mos 45,X/46,X,r(X) karyotype. Fluorescence in situ hybridization detected a positive XIST gene signal. XIST expression was demonstrated by reverse transcription polymerase chain reaction using primers spanning exons 2, 3, 4, 5 in RNA prepared from lymphocytes. To our knowledge, this is the first description of Kabuki syndrome manifestation with r(X) and XIST expression in Taiwan.
Su
Pen-Hua
PH
Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Kuo
Pao-Lin
PL
Chen
Suh-Jen
SJ
Chen
Jia-Yuh
JY
Yu
Ju-Shan
JS
Liu
Yuh-Ling
YL
Kao
I-Wen
IW
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics*; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations; D013577:Syndrome
D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; C077885:XIST non-coding RNA