Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis

Journal of Human Genetics

Volumn 53, Issue 5, 2008, Pages 454-459

  Fukami, Maki ^a   Dateki, Sumito ^a,b   Kato, Fumiko ^a   Hasegawa, Yukihiro ^c   Mochizuki, Hiroshi ^d   Horikawa, Reiko ^e   Ogata, Tsutomu ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^d SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^e NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Intragenic deletion; L ri Weill dyschondrosteosis; MLPA; Repeat sequence; SHOX

Indexed keywords

ALU SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DYSCHONDROSTEOSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENE PROBE; GENE SEQUENCE; GENETIC RECOMBINATION; HETEROZYGOTE; HOMEOBOX; HUMAN; JAPANESE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SHORT STATURE; SHORT STATURE HOMEOBOX CONTAINING GENE;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BODY HEIGHT; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; JAPAN; LIMB DEFORMITIES, CONGENITAL; OSTEOCHONDRODYSPLASIAS; SEQUENCE DELETION;

EID: 43449125876     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0269-z     Document Type: Article

References (19)

1. Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE (2005) A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet 77:533-544
2. Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE (2006a) PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands. Hum Mutat 27:1062
3. Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M, Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE (2006b) Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am J Hum Genet 79:409-414
4. Blaschke RJ, Rappold G (2006) The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev 16:233-239
5. Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM (2006) Breakpoints around the HOXD cluster result in various limb malformations. J Med Genet 43:111-118
6. Fukami M, Kato F, Tajima T, Yokoya S, Ogata T (2006) Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3′ region: implication for the downstream enhancer. Am J Hum Genet 78:167-170
7. Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L (2007) Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. J Hum Genet 52:21-27
8. Huber C, Rosilio M, Munnich A, Cormier-Daire V, French SHOX GeNeSIS Module (2006) High incidence of SHOX anomalies in individuals with short stature. J Med Genet 43:735-739
9. Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T (1999) Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab 84:4613-4621
10. Kozak L, Hrabincova E, Kintr J, Horky O, Zapletalova P, Blahakova I, Mejstrik P, Prochazkova D (2006) Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement. Mol Genet Metab 89:300-309
11. Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N (2003) Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 22:378-387
12. Langer LO Jr (1965) Dyschondrosteosis, a heritable bone dysplasia with characteristic roentgenographic features. AJR Am J Roentgenol 95:178-188
13. Lyon MF (2000) LINE-1 elements and X chromosome inactivation: a function for "junk" DNA? Proc Natl Acad Sci USA 97:6248-6249
14. Niesler B, Röth R, Wilke S, Fujimura F, Fischer C, Rappold G (2007) The novel Human SHOX allelic variant database. Hum Mutat 28:933-938
15. Ogata T (2002) SHOX haploinsufficiency: lessons from clinical studies. Curr Opin Endocrinol Diabetes 9:13-20
16. Sabherwal N, Bangs F, Roth R, Weiss B, Jantz K, Tiecke E, Hinkel GK, Spaich C, Hauffa BP, van der Kamp H, Kapeller J, Tickle C, Rappold G (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum Mol Genet 16:210-222
17. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57
18. Shaw CJ, Lupski JR (2004) Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13(Spec No 1):R57-R64
19. Spitz F, Montavon T, Monso-Hinard C, Morris M, Ventruto ML, Antonarakis S, Ventruto V, Duboule D (2002) A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. Genomics 79:493-498