Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

American Journal of Medical Genetics

Volumn 86, Issue 3, 1999, Pages 285-288

  Makita, Yoshio ^a   Yamada, Koki ^b   Miyamoto, Akie ^a   Okuno, Akimasa ^a   Niikawa, Norio ^b  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Contiguous gene syndrome; Kabuki make up syndrome; Microdeletion; Van der Woude syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1Q; DISEASE ASSOCIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; JAPAN; KABUKI MAKEUP SYNDROME; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; DNA PRIMERS; FACIES; FEMALE; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIP; MENTAL RETARDATION; MICROSATELLITE REPEATS; PHYSICAL CHROMOSOME MAPPING; SYNDROME;

EID: 0032848882     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990917)86:3<285::AID-AJMG18>3.0.CO;2-E     Document Type: Article

References (21)

1. Bocian M, Walker AP. 1987. Lip pits and deletion 1q32-41. Am J Med Genet 26:437-443.
2. Burke LW, Jones MC. 1995. Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate Craniofac J 32:77-84.
3. Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, Chiabotto P. 1993. Lower lip pit and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 47:423-425.
4. Frezal J, Schinzel A. 1991. Report of the committee on clinical disorders and uniparental disomy. Cytogenet Cell Genet 58:986-1052.
5. Halal F, Gledhill R, Dudkiewicz A. 1989. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 33:376-381.
6. Hamano S, Fukushima Y, Yamada T, Shimizu H, Okuyama M, Ito F, Maekawa K. 1987. A case of interstitial 1q deletion [46,XY,del-(q25q32.1)]. Ann Genet 30:105-108.
7. Ilyina H, Lurie I, Naumtchik I, Amoashy D, Stephanenko G, Fedotov V, Kostuk A. 1995. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations. Am J Med Genet 56:127-131.
8. Kobayashi O, Sakuragawa N. 1996. Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 61:92-93.
9. Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML. 1999. Lower lip pits and anorectal anomalies associated with Kabuki syndrome. Am J Med Genet 86:285-288.
10. Kuroki Y, Suzuki Y, Chiyo H, Hata A, Matsui I. 1981. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570-573.
11. Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. 1996. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2. Am J Med Genet 65:101-103.
12. Matsumoto N, Soeda E, Ohashi H, Fujimoto M, Kato R, Tsujita T, Tomita H, Kondo S, Fukushima Y, Niikawa N. 1997. A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2;14) in a mirror image polydactyly patient. Genomics 45:11-16.
13. Murray JC, Nishimura DY, Buetow KH, Ardinger HH, Spence MA, Sparkes RS, Falk RE, Falk PM, Gardner RJM, Harkness EM, Glinski LP, Pauli RM, Nakamura Y, Green PP, Schinzel A. 1990. Linkage of an autosomal dominant clefting syndrome (van der Woude) to loci on chromosome 1q. Am J Hum Genet 46:486-491.
14. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565-569.
15. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, Iwama Y, Kondoh I, Fukushima Y, Nako Y, Matsui I, Urakami T, Aritaki S, Hara M, Suzuki Y, Chyo H, Sugio Y, Hasegawa T, Yamanaka T, Tsukino R, Yoshida A, Nomoto N, Kawahito S, Aihara R, Toyota S, Ieshima A, Funaki H, Ishitobi K, Ogura S, Furumae T, Yoshino M, Tsuji Y, Kondoh T, Matsumoto T, Abe K, Harada N, Miike T, Ohdo S, Naritomi K, Abushwereb AK, Braun OH, Schmid E. 1988. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 31:565-589.
16. Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, Porteous M, Santos H, Cordeiro I, Selocorni A, Silengo M, Tariverdian G. 1992. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. Clin Dysmorphol 1:63-77.
17. Sander A, Murray JC, Scherpbier-Heddema T, Buetow KH, Weissenbach J, Zingg M, Ludwig K, Schmelzle R. 1995. Microsatellite-based fine mapping of the van der Woude locus to an interval of 4.1 cM between D1S245 and D1S414. Am J Hum Genet 56:310-318.
18. Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, Konig R, Philip N, Rizzo R, Schrander J, Pfeiffer L, Maat-Kievit A, van der Burgt I, van Essen T, Latta E, Hillig U, Verloes A, Journel H, Fryns JP. 1994. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 153:438-445.
19. Schutte BC, Sander A, Malik M, Murray JC. 1996. Refinement of the van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-41. Genomics 36:507-514.
20. Tsukahara M, Kuroki Y, Imaizumi K, Miyazawa Y, Matsuo K. 1997. Dominant inheritance of Kabuki make-up syndrome. Am J Med Genet 73: 19-23.
21. Wilson GN. 1998. Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management. Am J Med Genet 79:112-120.