Baller-Gerold syndrome ... (Baller-Gerold syndrome) - Gen RECQL4.
The Baller-Gerold syndrome is a rare condition characterized by craniosynostosis and abnormalities of the bones of the arms and hands. People with Baller-Gerold syndrome of bones have fused skull, more often along the coronal suture. Other sutures of the skull can also be fused. These changes lead to an abnormally shaped head, a prominent forehead and ocular proptosis. Other distinctive facial features may include hypertelorism, small mouth, and nose misshapen or underdeveloped. Referring to bone abnormalities of the hands, and these include oligodactyly malformed or absent thumbs. In addition, it is also frequently partial or complete absence of the forearm bones.
People with Baller-Gerold syndrome of can have a variety of additional signs and symptoms including slow growth in childhood, short stature, and malformed or missing kneecaps. Often a skin rash a few months after birth appears in the arms and legs. This rash spreads with time, causing irregular discoloration of skin atrophy and telangiectasia. These chronic skin problems are collectively known as poikiloderma. The various signs and symptoms of Baller-Gerold syndrome of overlap with features of other disorders such as Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by defects radial rays, skeletal abnormalities and slow growth. These alterations may be due to mutations in the same gene. Based on these similarities, it is investigated if Baller-Gerold syndrome, syndrome Rothmund-Thomson syndrome RAPADILINO are separate or part of a single syndrome signs and symptoms overlap alterations.
This process is due to mutations in the gene RECQL4, located on the long arm of chromosome 8 (8q24.3). This gene encodes a member of a family of proteins called helicases RecQ. Helicases are enzymes that bind to DNA and temporally unrolling the two strands coiled DNA molecule. This unwinding is necessary for copy DNA in preparation for cell division and to repair damaged DNA. Because the RecQ helicases maintain the structure and integrity of DNA, known as the "guardian of the genome". The RECQL4 protein is active on various types of cells before and after birth. It is likely that this protein is particularly important in the cells of developing bones and skin. It has also been found in enterocytes lining the intestine and absorb nutrients.
They have identified several mutations in the gene in people with RECQL4 Baller-Gerold syndrome. Most of these mutations inhibit protein coding RECQL4 or change the way the protein is constructed, disrupting their normal functions. The absence of this protein can inhibit normal copy DNA repair, causing over time generalized to genetic information of a person damage. It is unclear how these changes lead to various signs and symptoms of Baller-Gerold syndrome including craniosynostosis, short stature, absence of thumbs or forearm bones, and skin rash.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. 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 Baller-Gerold syndrome of, by complete PCR amplification of exons RECQL4 gene, 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).