Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome

Pediatrics

Volumn 118, Issue 2, 2006, Pages

  Todd, Emily S ^a   Scott, Nicole M ^b,d   Weese Mayer, Debra E ^a   Weinberg, Seth M ^b   Berry Kravis, Elizabeth M ^a   Silvestri, Jean M ^a   Kenny, Anna S ^a   Hauptman, Susan A ^a   Zhou, Lili ^a   Marazita, Mary L ^b,c  

^a Rush Children's Hospital and Rush University Medical Center   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Dermatoglyphics; Hirschsprung disease; PHOX2B gene

Indexed keywords

HOMEODOMAIN PROTEIN; PROTEIN PHOX2B; UNCLASSIFIED DRUG; NBPHOX PROTEIN; NERVE PROTEIN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DERMATOGLYPHICS; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HAND PALM; HEMISPHERIC DOMINANCE; HIRSCHSPRUNG DISEASE; HUMAN; HYPOVENTILATION; MALE; PHENOTYPE; PRIORITY JOURNAL; SCORING SYSTEM; ADRENERGIC SYSTEM; CENTRAL SLEEP APNEA SYNDROME; COMPARATIVE STUDY; FINGER; GENETICS; INNERVATION; PATHOLOGY; PRENATAL DEVELOPMENT; PRESCHOOL CHILD; SEX DIFFERENCE; SKIN; VARIABLE NUMBER OF TANDEM REPEAT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DERMATOGLYPHICS; FEMALE; FINGERS; GENOTYPE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MINISATELLITE REPEATS; NERVE TISSUE PROTEINS; PHENOTYPE; SEX FACTORS; SKIN; SLEEP APNEA, CENTRAL; SYMPATHETIC NERVOUS SYSTEM; TRANSCRIPTION FACTORS;

EID: 33748413833     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2005-3134     Document Type: Article

References (48)

1. Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM. American Thoracic Society statement on the diagnosis and management of idiopathic congenital central hypoventilation syndrome. Am J Respir Crit Care Med. 1999;160:368-373
2. Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B. Am J Med Gen. 2003;123A:267-278
3. Amiel J, Laudier B, Attie-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003;33:459-461
4. Matera I, Bachetti T, Puppo F, et al. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. J Med Gen. 2004;41:373-380
5. Sasaki A, Kanai M, Kijima K, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003;114:22-26
6. Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C. The French Congenital Central Hypoventilation Syndrome registry: general data, phenotype, and genotype. Chest. 2005;127:72-79
7. Trochet D, O'Brien LM, Gozal D, et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet. 2005;76:421-426
8. Todd ES, Weinberg SM, Berry-Kravis EM, et al. Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: Quantitative pattern of dysmorphology. Pediatr Res. 2006;59:39-45
9. Dubreuil V, Hirsch M, Jouve C, Brunet J, Goridis C. The role of PHOX2b in synchronizing pan-neuronal and type-specific aspects of neurogenesis. Development. 2002;129:5241-5253
10. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature. 1999;399:366-370
11. Stanke M, Junghans D, Geissen M, Goridis C, Ernsberger U, Rohrer H. The Phox2 homeodomain proteins are sufficient to promote the development of sympathetic neurons. Development. 1999;126:4087-4094
12. Samad OA, Geisen MJ, Caronia G, et al. Integration of anteroposterior and dorsoventral regulation of Phox2b transcription in cranial motoneuron progenitors by homeodomain proteins. Development. 2004;131:4071-4083
13. Huber K, Karch N, Ernsberger U, Goridis C Unsicker K. The role of Phox2B in chromaffin cell development. Dev Biol. 2005;279:501-508
14. Lo L, Morin X, Brunet J, Anderson DJ. Specification of neurotransmitter identity by Phox2 proteins in neural crest stem cells. Neuron. 1999;22:693-705
15. Dell DA, Munger BL. The early embryogenesis of papillary (sweat duct) ridges in primate glabrous skin: the dermatotopic map of cutaneous mechanoreceptors and dermatoglyphics. J Comp Neurol. 1986;244:511-532
16. Moore SJ, Munger BL. The early ontogeny of the afferent nerves and papillary ridges in human digital glabrous skin. Brain Res Dev Brain Res. 1989;48:119-141
17. Plato CC, Cereghino JJ, Steinberg SS. Dermatoglyphics of American Caucasians. Am J Phys Anthrop. 1975;42:195-210
18. Walker NF. Inkless methods of finger, palm, and sole printing. J Pediatr. 1957;50:27-29
19. Cummins H, Mildo WC. Fingerprints, Palms and Soles: An Introduction to Dermatoglyphics. New York, NY: Dover; 1961
20. SAS Institute Inc. SAS Procedures Guide. Version 8. Cary, NC: SAS Institute Inc; 1999
21. Gottlieb SH, Schuster MM. Dermatoglyphic (fingerprint) evidence for a congenital syndrome of early onset constipation and abdominal pain. Gastroenterology. 1986;91:428-432
22. Staiano A, Andreotti MR, Perrotta V, Strisciuglio P. Prevalence of digital arches in children with abdominal pain and constipation. J Pediatr. 1990;117:435-436
23. Drongowski RA, Coran AG. Dermatoglyphic patterns in children with chronic constipation. Dig Dis Sci. 1995;40:1420-1422
24. Jackson CR, Anderson B, Jaffray B. Childhood constipation is not associated with characteristic fingerprint patterns. Arch Dis Child. 2003;88:1076-1077
25. Goshima S, Fagundes-Neto U, Morais MB. Dermatoglyphics of children with chronic constipation. Arq Gastroenterol. 2004;41:37-41
26. Weese-Mayer DE, Silvestri JM, Huffman AD, et al. Case/control family study of ANS dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genetics. 2001;100:237-245
27. Brooks AS, Oostra BA, Hofstra RMW. Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. Clin Genet. 2004;67:6-14
28. Babler WJ. Embryologic development of epidermal ridges and their configurations. Birth Defects Orig Artic Ser. 1991;27:95-112
29. Scott NM, Weinberg SM, Neiswanger K, et al. Dermatoglyphic pattern types in subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and their unaffected relatives in the Philippines. Cleft Palate Craniofac J. 2005;42:362-366
30. Lu MC, Sammel MD, Cleveland RH, Ryan LM, Holmes LB. Digit effects produced by prenatal exposure to antiepileptic drugs. Teratology. 2000;61:277-283
31. Bokhari A, Coull BA, Holmes LB. Effect of prenatal exposure to anticonvulsant drugs on dermal ridge patterns of fingers. Teratology. 2002;66:19-23
32. Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W.B. Saunders Company; 1997:559-563
33. Kozakewich H, Fox K, Plato CC, Cronk C, Mandell F, Vawter GF. Dermatoglyphics in sudden infant death syndrome. Pediatr Pathol. 1992;12:637-651
34. Franco P, Szliwowski H, Dramaix M, Kahn A. Decreased autonomic responses to obstructive sleep events in future victims of sudden infant death syndrome. Pediatr Res. 1999;46:33-39
35. Kelly DH, Golub H, Carley D, Shannon DC. Pneumograms in infants who subsequently died of sudden infant death syndrome. J Pediatr. 1986;109:249-254
36. Franco P, Szliwowski H, Dramaix M, Kahn A. Polysomnographic study of the autonomic nervous system in potential victims of sudden infant death syndrome. Clin Auton Res. 1998;8:243-249
37. Ledwidge M, Fox G, Matthews T. Neurocardiogenic syncope: a model for SIDS. Arch Dis Child. 1998;78:481-483
38. Schechtman VL, Harper RM, Kluge KA, Wilson AJ, Hoffman HJ, Southall DP. Cardiac and respiratory patterns in normal infants and victims of the sudden infant death syndrome. Sleep. 1988;11:413-424
39. Meny RG, Carroll JL, Carbone MT, Kelly DH. Cardiorespiratory recordings from infants dying suddenly and unexpectedly at home. Pediatr. 1994;93:44-49
40. Ponsonby AL, Dwyer T, Gibbons LE, Cochrane JA, Jones ME, McCall MJ. Thermal environment and sudden infant death syndrome: case-control study. BMJ. 1992;304:277-282
41. Kahn A, Groswasser J, Rebuffat E, et al. Sleep and cardiorespiratory characteristics of infant victims of sudden death: a prospective case-control study. Sleep. 1992;15:287-292
42. Schwartz PJ, Stramba-Badiale M, Segantini A, et al. Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med. 1998;338:1709-1714
43. Bonnevie K. Studies on papillary patterns of human fingers. J Genet. 1924;15:1-111
44. Mulvihill JJ, Smith DW. The genesis of dermatoglyphics. J Pediatr. 1969;75:579-589
45. Pattyn A, Morin X, Cremer H, Goridis C, Brunet J. Expression and interaction of the closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development. 1997;124:4065-4075
46. 75NTR, Phox2a-, Phox2b-, and tyrosine hydroxylase immunoreactivity by undifferentiated neural crest derived cells and different classes of enteric neurons in the embryonic mouse gut. Dev Dyn. 1999;216:137-152
47. Badner JA, Sieber WK, Garver KL, Chakravarti A. A genetic study of Hirschsprung disease. Am J Med Genet. 1990;46:568-580
48. Emison ES, McCallion AS, Kashuk, CS, et al. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature. 2005;434:857-863