Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

被引：30

作者：

Kuniba, Hideo ^{[1
,2
,15
]}

Yoshiura, Koh-ichiro ^{[1
,15
]}

Kondoh, Tatsuro ^{[2
]}

Ohashi, Hirofumi ^{[3
,15
]}

Kurosawa, Kenji ^{[4
]}

Tonoki, Hidefumi ^{[5
]}

Nagai, Toshiro ^{[6
,15
]}

Okamoto, Nobuhiko ^{[7
,8
]}

Kato, Mitsuhiro ^{[9
]}

Fukushima, Yoshimitsu ^{[10
,15
]}

Kaname, Tadashi ^{[15
]}

Naritomi, Kenji ^{[15
]}

Matsumoto, Tadashi ^{[2
,11
]}

Moriuchi, Hiroyuki ^{[2
,11
]}

Kishino, Tatsuya ^{[12
,15
]}

Kinoshita, Akira ^{[1
,15
]}

Miyake, Noriko ^{[13
,15
]}

Matsumoto, Naomichi ^{[13
,15
]}

Niikawa, Norio ^{[1
,14
,15
]}

机构：

[1] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 8528523, Japan

[2] Nagasaki Univ, Sch Med, Dept Pediat, Nagasaki 8528523, Japan

[3] Saitama Childrens Med Ctr, Div Med Genet, Iwatsuki, Saitama, Japan

[4] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan

[5] Tenshi Hosp, Dept Pediat, Sapporo, Hokkaido, Japan

[6] Dokkyo Univ, Sch Med, Koshigaya Hosp, Dept Pediat, Koshigaya, Japan

[7] Osaka Med Ctr, Dept Planning & Res, Osaka, Japan

[8] Res Inst Maternal & Child Hlth, Osaka, Japan

[9] Yamagata Univ, Sch Med, Dept Pediat, Yamagata 99023, Japan

[10] Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 390, Japan

[11] Univ Ryukyus, Dept Med Genet, Nishihara, Okinawa 90301, Japan

[12] Nagasaki Univ, Div Funct Genom, Ctr Frontier Life Sci, Nagasaki 852, Japan

[13] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan

[14] Hlth Sci Univ Hokkaido, Res Inst Personalized Hlth Sci, Tobetsu, Japan

[15] Japan Sci & Technol Agcy, Tokyo, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2009年 / 54卷 / 05期

基金：

日本科学技术振兴机构;

关键词：

Kabuki syndrome; microdeletion; molecular karyotyping; mutation screening; Niikawa-Kuroki syndrome; MAKE-UP-SYNDROME; NIIKAWA-KUROKI SYNDROME; ARRAY-CGH; MENTAL-RETARDATION; DUPLICATION; ASSOCIATION; ABERRATIONS; 8P22-P23.1; DELETIONS; C20ORF133;

D O I：

10.1038/jhg.2009.30

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Kabuki syndrome (KS, OMIM 147920), also known as the Niikawa-Kuroki syndrome, is a multiple congenital anomaly/mental retardation syndrome characterized by a distinct facial appearance. The cause of KS has been unidentified, even by whole-genome scan with array comparative genomic hybridization (CGH). In recent years, high-resolution oligonucleotide array technologies have enabled us to detect fine copy number alterations. In 17 patients with KS, molecular karyotyping was carried out with GeneChip 250K NspI array (Affymetrix) and Copy Number Analyser for GeneChip (CNAG). It showed seven copy number alterations, three deleted regions and four duplicated regions among the patients, with the exception of registered copy number variants (CNVs). Among the seven loci, only the region of 9q21.11-q21.12 (similar to 1.27 Mb) involved coding genes, namely, transient receptor potential cation channel, subfamily M, member 3 (TRPM3), Kruppel-like factor 9 (KLF9), structural maintenance of chromosomes protein 5 (SMC5) and MAM domain containing 2 (MAMDC2). Mutation screening for the genes detected 10 base substitutions consisting of seven single-nucleotide polymorphisms (SNPs) and three silent mutations in 41 patients with KS. Our study could not show the causative genes for KS, but the locus of 9q21.11-q21.12, in association with a cleft palate, may contribute to the manifestation of KS in the patient. As various platforms on oligonucleotide arrays have been developed, higher resolution platforms will need to be applied to search tiny genomic rearrangements in patients with KS. Journal of Human Genetics (2009) 54, 304-309; doi:10.1038/jhg.2009.30; published online 3 April 2009

引用

页码：304 / 309

页数：6

共 50 条

[1] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Hideo Kuniba
Koh-ichiro Yoshiura
Tatsuro Kondoh
Hirofumi Ohashi
Kenji Kurosawa
Hidefumi Tonoki
Toshiro Nagai
Nobuhiko Okamoto
Mitsuhiro Kato
Yoshimitsu Fukushima
Tadashi Kaname
Kenji Naritomi
Tadashi Matsumoto
Hiroyuki Moriuchi
Tatsuya Kishino
Akira Kinoshita
Noriko Miyake
Naomichi Matsumoto
Norio Niikawa
Journal of Human Genetics, 2009, 54 : 304 - 309
[2] A mutation screen in patients with Kabuki syndrome
Li, Yun
Boegershausen, Nina
Alanay, Yasemin
Kiper, Pelin Ozlem Simsek
Plume, Nadine
Keupp, Katharina
Pohl, Esther
Pawlik, Barbara
Rachwalski, Martin
Milz, Esther
Thoenes, Michaela
Albrecht, Beate
Prott, Eva-Christina
Lehmkuehler, Margret
Demuth, Stephanie
Utine, Gulen Eda
Boduroglu, Koray
Frankenbusch, Katja
Borck, Guntram
Gillessen-Kaesbach, Gabriele
Yigit, Gokhan
Wieczorek, Dagmar
Wollnik, Bernd
HUMAN GENETICS, 2011, 130 (06) : 715 - 724
[3] Craniofacial and Dental Features in Kabuki Syndrome Patients
Sobral, Samantha do Prado
Leite, Andre Ferreira
Sousa Figueiredo, Paulo Tadeu
Ferrari, Iris
Neto Safatle, Heloisa Pires
Cordoba, Mara Santos
Versiani, Beatriz Ribeiro
Acevedo, Ana Carolina
Mestrinho, Heliana Dantas
CLEFT PALATE-CRANIOFACIAL JOURNAL, 2013, 50 (04) : 440 - 447
[4] Ectodermal Abnormalities in Patients with Kabuki Syndrome
Abdel-Salam, Ghada M. H.
Afifi, Hanan H.
Eid, Maha M.
El-Badry, Tarek H.
Kholoussi, Naglaa
PEDIATRIC DERMATOLOGY, 2011, 28 (05) : 507 - 511
[5] Dental Evaluation of Kabuki Syndrome Patients
Teixeira, Camila Santos
Leite Silva, Claudia Renata
Honjo, Rachel Sayuri
Bertola, Debora Romeo
Jose Albano, Lilian Maria
Kim, Chong Ae
CLEFT PALATE-CRANIOFACIAL JOURNAL, 2009, 46 (06) : 668 - 673
[6] MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome
Paulussen, Aimee D. C.
Stegmann, Alexander P. A.
Blok, Marinus J.
Tserpelis, Demis
Posma-Velter, Crool
Detisch, Yvonne
Smeets, Eric E. J. G. L.
Wagemans, Annemieke
Schrander, Jaap J. P.
van den Boogaard, Marie-Jose H.
van der Smagt, Jasper
van Haeringen, Arie
Stolte-Dijkstra, Irene
Kerstjens-Frederikse, Wilhelmina S.
Mancini, Grazia M.
Wessels, Marja W.
Hennekam, Raoul C. M.
Vreeburg, Maaike
Geraedts, Joep
de Ravel, Thomy
Fryns, Jean-Pierre
Smeets, Hubert J.
Devriendt, Koenraad
Schrander-Stumpel, Constance T. R. M.
HUMAN MUTATION, 2011, 32 (02) : E2018 - E2025
[7] Congenital heart defects in molecularly proven Kabuki syndrome patients
Digilio, Maria Cristina
Gnazzo, Maria
Lepri, Francesca
Dentici, Maria Lisa
Pisaneschi, Elisa
Baban, Anwar
Passarelli, Chiara
Capolino, Rossella
Angioni, Adriano
Novelli, Antonio
Marino, Bruno
Dallapiccola, Bruno
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (11) : 2912 - 2922
[8] Clinical and molecular characteristics of Korean patients with Kabuki syndrome
Yoon, Ji-Hee
Hwang, Soojin
Bae, Hyunwoo
Kim, Dohyung
Seo, Go Hun
Koh, June-Young
Ju, Young Seok
Do, Hyo-Sang
Kim, Soyoung
Kim, Gu-Hwan
Kim, Ja Hye
Choi, Jin-Ho
Lee, Beom Hee
JOURNAL OF HUMAN GENETICS, 2024, 69 (09) : 417 - 423
[9] MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
Makrythanasis, P.
van Bon, B. W.
Steehouwer, M.
Rodriguez-Santiago, B.
Simpson, M.
Dias, P.
Anderlid, B. M.
Arts, P.
Bhat, M.
Augello, B.
Biamino, E.
Bongers, E. M. H. F.
del Campo, M.
Cordeiro, I.
Cueto-Gonzalez, A. M.
Cusco, I.
Deshpande, C.
Frysira, E.
Izatt, L.
Flores, R.
Galan, E.
Gener, B.
Gilissen, C.
Granneman, S. M.
Hoyer, J.
Yntema, H. G.
Kets, C. M.
Koolen, D. A.
Marcelis, C. L.
Medeira, A.
Micale, L.
Mohammed, S.
de Munnik, S. A.
Nordgren, A.
Psoni, S.
Reardon, W.
Revencu, N.
Roscioli, T.
Ruiterkamp-Versteeg, M.
Santos, H. G.
Schoumans, J.
Schuurs-Hoeijmakers, J. H. M.
Silengo, M. C.
Toledo, L.
Vendrell, T.
van der Burgt, I.
van Lier, B.
Zweier, C.
Reymond, A.
Trembath, R. C.
CLINICAL GENETICS, 2013, 84 (06) : 539 - 545
[10] Hypoplastic Left Heart Syndrome in Patients with Kabuki Syndrome
Kung, Grace C.
Chang, Philip M.
Sklansky, Mark S.
Randolph, Linda M.
PEDIATRIC CARDIOLOGY, 2010, 31 (01) : 138 - 141

← 1 2 3 4 5 →