ColeâCarpenter syndrome | |
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Autosomal recessive pattern is the inheritance manner of this condition. | |
Specialty | Medical genetics |
ColeâCarpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The condition affects less than 10 people worldwide. [1] It is characterised by dysmorphic features and a tendency to fractures.
This condition is usually diagnosed in infancy.
Features of this condition include:[ citation needed]
There are three forms of this syndrome.
Type 1 has mutations in the protein disulfide-isomerase ( P4HB) gene located on the long arm of chromosome 17 (17q25). [2]
Type 2 have mutations in the protein transport protein Sec24D ( SEC24D) gene located on the long arm of chromosome 4 (4q26). [3]
A third type has been described with a mutation in the cartilage associated protein ( CRTAP) located on the short arm of chromosome 3 (3p22.3). [4]
Clinically these forms are very similar and are best differentiated by gene sequencing.
The third patient (first female) diagnosed with this condition, gene sequencing shows no abnormalities.
Protein disulfide-isomerase is involved in the hydroxylation of proline residues in preprocollagen. Protein transport protein Sec24D is a protein involved in vesicle transport. How mutations in the gene cause disease is not yet clear. Cartilage associated protein is involved in post translation modifications of collagen.[ citation needed]
The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the P4HB, SEC24D and CRTAP genes.[ citation needed]
There is no specific treatment for this condition currently known and management of its various features is the norm.[ citation needed]
This condition was first described in 1987. [1]
ColeâCarpenter syndrome | |
---|---|
![]() | |
Autosomal recessive pattern is the inheritance manner of this condition. | |
Specialty | Medical genetics |
ColeâCarpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The condition affects less than 10 people worldwide. [1] It is characterised by dysmorphic features and a tendency to fractures.
This condition is usually diagnosed in infancy.
Features of this condition include:[ citation needed]
There are three forms of this syndrome.
Type 1 has mutations in the protein disulfide-isomerase ( P4HB) gene located on the long arm of chromosome 17 (17q25). [2]
Type 2 have mutations in the protein transport protein Sec24D ( SEC24D) gene located on the long arm of chromosome 4 (4q26). [3]
A third type has been described with a mutation in the cartilage associated protein ( CRTAP) located on the short arm of chromosome 3 (3p22.3). [4]
Clinically these forms are very similar and are best differentiated by gene sequencing.
The third patient (first female) diagnosed with this condition, gene sequencing shows no abnormalities.
Protein disulfide-isomerase is involved in the hydroxylation of proline residues in preprocollagen. Protein transport protein Sec24D is a protein involved in vesicle transport. How mutations in the gene cause disease is not yet clear. Cartilage associated protein is involved in post translation modifications of collagen.[ citation needed]
The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the P4HB, SEC24D and CRTAP genes.[ citation needed]
There is no specific treatment for this condition currently known and management of its various features is the norm.[ citation needed]
This condition was first described in 1987. [1]