Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We evaluated the craniofacial and airway morphology in children with achondroplasia complicated by snoring and apnea during sleep (AP group) in comparison with children with snoring and apnea during sleep without chromosomal aberrations (adenoid group) and healthy children without sleep disordered breathing or malalignment (healthy group). Lateral cephalograms in 10 children each (four males and six females) in the three groups were analyzed. When the AP and healthy groups were compared, the AP group showed significantly lower values for facial depth, nasal floor length, point A, point pog, and saddle angle (p<0.01) and significantly higher values for mandibular plane angle and gonial angle (p<0.01) regarding craniofacial morphology and significantly lower values for D-AD1, D-AD2, and upper pharynx (p<0.01) regarding airway morphology. When the AP and adenoid groups were compared, the AP group showed significantly lower values for facial depth, nasal floor length, point A, point pog, and saddle angle (p<0.01) and significantly higher values for mandibular plane angle and gonial angle (p<0.01) regarding craniofacial morphology and significantly lower values for D-AD1, D-AD2, and upper pharynx (p<0.05) regarding airway morphology. Thus, the craniofacial/airway morphology in the AP group was characterized by upper airway stenosis, a retruded position of the chin, and an increased mandibular plane angle due to partial early ossification of cranial bones, and an increased lower facial height due to an increased mandibular angle, which may tend to induce sleep snoring and apnea.
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PMID:Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. 1640 83

Mandibular micrognathia is a deficiency in mandibular growth that prevents tooth contact during mastication, interferes with phonation and even causes sleep apnea. Studies show that mutant mice for chd (chordin) and nog (noggin) genes, which are modulators of the Bone Morphogenic Protein (BMP), had mandibular defects ranging from mandibular hypoplasia to micrognathia and agnathia. The human NOG gene was the first BMP antagonist identified and it is essential for various late events in mandibular development, which require modulation of the BMP activity. The aim of this work was to determine the presence of NOG gene polymorphisms in families with mandibular micrognathia and analyze its phenotype. Four families with mandibular micrognathia were included in this study. Blood samples were taken from the participating individuals through venipuncture and DNA was extracted. The fragments of interest were amplified using the Polymerase Chain Reaction (PCR) and the Single Nucleotide Polymorphisms (SNPs) of the NOG gene reported in the NCBI data base were analyzed through direct sequencing. The SNP rs1348322 was present in homozygote form in the subjects from all the families, where Cytosine is changed to Adenine in position 112 of the exon of the NOG gene. The SNP rs1236187 did not show any clear result. This result suggests that there may be population polymorphism, or markers that are seldom polymorphic for our population. It is therefore necessary to continue with the search for the relationship of the NOG gene with mandibular micrognathia.
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PMID:Polymorphisms of the noggin gene and mandibular micrognathia: a first approximation. 2064 37