Miller syndrome ... (Miller syndrome) - Gen DHODH.  

Miller syndrome is a rare disease that primarily affects the development of the face and extremities. The severity of the disorder varies from one individual to another. Children with Miller 's syndrome are born with malar hypoplasia and micrognathia. Often they have cleft palate and / or lip. Often, these abnormalities cause feeding problems in infants. The airway is often limited due to micrognathia, which can cause life - threatening breathing problems. People with Miller syndrome often have eyes bent down, turned eyelids so that the inner surface is exposed, and an indentation in the lower eyelid called coloboma of the eyelid. Many affected have small cup - shaped ears, and some have conductive hearing loss. Another feature of this disease is the presence of an additional nipple. Miller syndrome does not affect a person 's intelligence, but may be delayed speech development due to hearing impairment. People with various bone Miller syndrome have abnormalities in their arms and legs, most often lack the little hands and feet. Affected individuals may also have syndactyly and malformation of bones in the forearms, calves, ribs or spine. Less frequently, affected individuals have abnormalities of the heart, kidneys, genital or gastrointestinal tract.

This process is due to mutations in the DHODH gene, located on the long (q) arm of chromosome 16 (16q22), encoding the dehydrogenase enzyme dihydroorotate, involved in pyrimidine synthesis, RNA, and molecules such as ATP and GTP They are used as energy sources in the cell. More specifically, the enzyme converts a molecule called dihydroorotate to a molecule called orotic acid.

They have identified at least 11 mutations in the gene that cause DHODH Miller syndrome. Most of these mutations change the amino acids in dihydroorotate dehydrogenase, affecting the ability of the enzyme to function normally. It is unclear exactly how DHODH genetic mutations lead to signs and symptoms of Miller syndrome.

This alteration is inherited as an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for the alteration is manifested. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.  

Tests in IVAMI: in IVAMI perform detection of mutations associated with Miller syndrome, by complete PCR amplification of the exons of the gene DHODH, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).