title: Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
abstract: OBJECTIVE
  Individuals with congenital central hypoventilation syndrome have characteristic variants in the PHOX2B gene (primarily polyalanine expansion mutations). The PHOX2B gene acts as a transcriptional activator in the promotion of pan-neuronal differentiation in the autonomic nervous system during early embryologic development, with a primary role in the sympathetic noradrenergic phenotype in vertebrates. Because sympathetic innervation has been hypothesized to affect the development of dermatoglyphic pattern types, we hypothesized that individuals with PHOX2B-confirmed congenital central hypoventilation syndrome would have characteristic dermatoglyphic patterning and that the dermatoglyphic phenotype would be related to the disease-defining PHOX2B genotype.
  
  
  METHODS
  Dermatoglyphic pattern type frequency, left/right symmetry, and genotype/phenotype correlation were assessed for 33 individuals with PHOX2B-confirmed congenital central hypoventilation syndrome and compared with published control data.
  
  
  RESULTS
  Dermatoglyphic pattern type frequencies were altered in congenital central hypoventilation syndrome cases versus controls. In particular, there was an increase of arches in females and ulnar loops in males, with the largest differences for the left hand and for individuals with both congenital central hypoventilation syndrome and Hirschsprung disease. Dissimilarity scores between the congenital central hypoventilation syndrome and congenital central hypoventilation syndrome + Hirschsprung disease cases were not significantly different, nor were dissimilarity scores between all of the female and all of the male cases. No significant association was found between the number of polyalanine repeats in the PHOX2B genotypic category and dermatoglyphic pattern frequencies in the congenital central hypoventilation syndrome study groups.
  
  
  CONCLUSIONS
  These results represent the first report describing specific dermatoglyphic patterning in congenital central hypoventilation syndrome and suggest a relationship between PHOX2B and the expression of dermatoglyphic pattern types. An expanded congenital central hypoventilation syndrome data set to include the full spectrum of PHOX2B mutations is necessary to further delineate the role of PHOX2B in dermatoglyphic patterning.
authors.affiliation: Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA.
authors.forename: Emily S
authors.initials: ES
authors.lastname: Todd
authors.forename: Nicole M
authors.initials: NM
authors.lastname: Scott
authors.forename: Debra E
authors.initials: DE
authors.lastname: Weese-Mayer
authors.forename: Seth M
authors.initials: SM
authors.lastname: Weinberg
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Berry-Kravis
authors.forename: Jean M
authors.initials: JM
authors.lastname: Silvestri
authors.forename: Anna S
authors.initials: AS
authors.lastname: Kenny
authors.forename: Susan A
authors.initials: SA
authors.lastname: Hauptman
authors.forename: Lili
authors.initials: L
authors.lastname: Zhou
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003878:Dermatoglyphics; D005260:Female; D005385:Fingers / Q000196:embryology / Q000294:innervation; D005838:Genotype; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics; D010641:Phenotype; D012737:Sex Factors; D012867:Skin / Q000196:embryology / Q000294:innervation; D020182:Sleep Apnea, Central / Q000150:complications / Q000151:congenital* / Q000235:genetics; D013564:Sympathetic Nervous System / Q000473:pathology; D014157:Transcription Factors / Q000172:deficiency* / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D009419:Nerve Tissue Proteins; D014157:Transcription Factors