Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2537-2541

  Takenouchi, Toshiki ^a   Okuno, Hironobu ^a   Kosaki, Rika ^b   Ariyasu, Daisuke ^c   Torii, Chiharu ^a   Momoshima, Suketaka ^a   Harada, Naoki ^d   Yoshihashi, Hiroshi ^c   Takahashi, Takao ^a   Awazu, Midori ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

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

^d LSI MEDIENCE CORPORATION   (Japan)

Author keywords

Clefting; Ectrodactyly; Holoprosencephaly; Split hand

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; METHYLPHENIDATE; SODIUM;

ARTICLE; CASE REPORT; CAUDATE NUCLEUS; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CHROMOSOME XQ24; CLEFT LIP PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DEHYDRATION; DIABETES INSIPIDUS; ECTRODACTYLY; FEVER; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; GROWTH RETARDATION; HARTSFIELD SYNDROME; HOLOPROSENCEPHALY; HUMAN; HYPERACTIVITY; HYPERNATREMIA; HYPERTELORISM; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS DISEASE; INFANT; JAPANESE; MALE; MICROPENIS; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OLFACTORY BULB; PRESCHOOL CHILD; PRIORITY JOURNAL; SLC25A43 GENE; SLC25A5 GENE; SODIUM BLOOD LEVEL; SPECIAL EDUCATION; TONIC CLONIC SEIZURE; UPPER RESPIRATORY TRACT INFECTION; X CHROMOSOME INACTIVATION;

CHILD; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, X; CLEFT LIP; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FINGERS; HAND DEFORMITIES, CONGENITAL; HOLOPROSENCEPHALY; HUMANS; INTELLECTUAL DISABILITY; LIMB DEFORMITIES, CONGENITAL; MAGNETIC RESONANCE IMAGING; MALE;

EID: 84866487597     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35465     Document Type: Article

References (23)

1. Abdel-Meguid N, Ashour AM. 2001. Holoprosencephaly and split hand/foot: An additional case with this rare association. Clin Dysmorphol 10: 277-279.
2. Barber JC, Maloney VK, Bewes B, Wakeling E. 2006. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. Eur J Hum Genet 14: 739-743.
3. Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH. 2010. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. Clin Genet 77: 541-551.
4. Corona-Rivera A, Corona-Rivera JR, Bobadilla-Morales L, Garcia-Cobian TA, Corona-Rivera E. 2000. Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35). Am J Med Genet 90: 423-426.
5. David D, Marques B, Ferreira C, Vieira P, Corona-Rivera A, Ferreira JC, van Bokhoven H. 2009. Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5Mb on chromosome 2q14.1-q14.2. Eur J Hum Genet 17: 1024-1033.
6. de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB. et al. 2010. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. Am J Med Genet Part A 152A: 3084-3090.
7. Fujisaki S, Sugiyama A, Eguchi T, Watanabe Y, Hiraiwa H, Honma D, Saito T, Yasue H. 2004. Analysis of a full-length cDNA library constructed from swine olfactory bulb for elucidation of expressed genes and their transcription initiation sites. J Vet Med Sci 66: 15-23.
8. Hahn JS, Barnes PD. 2010. Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Am J Med Genet Part C Semin Med Genet 154C: 120-132.
9. Haitina T, Lindblom J, Renstrom T, Fredriksson R. 2006. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. Genomics 88: 779-790.
10. Hartsfield J, Bixler D, DeMeyer W. 1984. Syndrome identification case report 119. Hypertelorism associated with holoprosencephaly and ectrodactyly. Clin Dysmorphol 2: 27-31.
11. Honda S, Orii KO, Kobayashi J, Hayashi S, Imamura A, Imoto I, Nakagawa E, Goto Y, Inazawa J. 2010. Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation. J Hum Genet 55: 244-247.
12. Imaizumi K, Ishii T, Masuno M, Kuroki Y. 1998. Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: A possible third case. Clin Dysmorphol 7: 213-216.
13. Keaton AA, Solomon BD, van Essen AJ, Pfleghaar KM, Slama MA, Martin JA, Muenke M. 2010. Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature. Am J Med Genet Part C Semin Med Genet 154C: 170-175.
14. Konig R, Beeg T, Tariverdian G, Scheffer H, Bitter K. 2003. Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: Another case and follow up. Clin Dysmorphol 12: 221-225.
15. Montero JA, Hurle JM. 2010. Sculpturing digit shape by cell death. Apoptosis 15: 365-375.
16. Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM. 2006. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet 79: 549-555.
17. Seto ML, Nunes ME, MacArthur CA, Cunningham ML. 1997. Pathogenesis of ectrodactyly in the Dactylaplasia mouse: Aberrant cell death of the apical ectodermal ridge. Teratology 56: 262-270.
18. Sharp A, Robinson D, Jacobs P. 2000. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 107: 343-349.
19. Uehara S, Hanew K, Harada N, Yamamori S, Nata M, Niikawa N, Okamura K. 2001. Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature. Am J Med Genet 99: 196-199.
20. Van Maldergem L, Gillerot Y, Vamos E, Toppet M, Watillon P, Van Vliet G. 1992. Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome. Acta Paediatr 81: 365-367.
21. Vilain C, Mortier G, Van Vliet G, Dubourg C, Heinrichs C, de Silva D, Verloes A, Baumann C. 2009. Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review. Am J Med Genet Part A 149A: 1476-1481.
22. Young ID, Zuccollo JM, Barrow M, Fowlie A. 1992. Holoprosencephaly, telecanthus and ectrodactyly: A second case. Clin Dysmorphol 1: 47-51.
23. Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CD, Guion-Almeida ML, Richieri-Costa A. 2009. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. Am J Med Genet Part A 149: 1277-1279.