| Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. | |
| | |
MedLine Citation:
|
PMID: 16882781 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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:
|
Emily S Todd; Nicole M Scott; Debra E Weese-Mayer; Seth M Weinberg; Elizabeth M Berry-Kravis; Jean M Silvestri; Anna S Kenny; Susan A Hauptman; Lili Zhou; Mary L Marazita |
Publication Detail:
|
Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Pediatrics Volume: 118 ISSN: 1098-4275 ISO Abbreviation: Pediatrics Publication Date: 2006 Aug |
Date Detail:
|
Created Date: 2006-08-02 Completed Date: 2006-09-11 Revised Date: 2007-11-14 |
Medline Journal Info:
|
Nlm Unique ID: 0376422 Medline TA: Pediatrics Country: United States |
Other Details:
|
Languages: eng Pagination: e408-14 Citation Subset: AIM; IM |
Affiliation:
|
Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Child Child, Preschool Dermatoglyphics* Female Fingers / embryology, innervation Genotype Hirschsprung Disease / complications, genetics, pathology Homeodomain Proteins / genetics Humans Male Minisatellite Repeats Nerve Tissue Proteins / deficiency*, genetics Phenotype Sex Factors Skin / embryology, innervation Sleep Apnea, Central / complications, congenital*, genetics Sympathetic Nervous System / pathology Transcription Factors / deficiency*, genetics |
| Grant Support | |
ID/Acronym/Agency:
|
P50-DE016215/DE/NIDCR NIH HHS; R01-DE016148/DE/NIDCR NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/Homeodomain Proteins; 0/NBPhox protein; 0/Nerve Tissue Proteins; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Increased risk of precocious puberty in internationally adopted children in Denmark.
Next Document: Fetal tricuspid valve size and growth as predictors of outcome in pulmonary atresia with intact vent...