Clouston syndrome

Inheritance

How is Clouston Syndrome inherited?

Clouston syndrome is inherited in a autosomal dominant pattern. Everyone has two copies of their GJB6 gene. One copy of the gene comes from your mother and the other copy comes from your father. When a person has a specific change (mutation) in one copy of their GJB6 gene, they have a genetic diagnosis of Clouston syndrome.

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If a child has a GJB6 gene mutation for Clouston Syndrome, how often is this inherited from their mother or father?

Are there other types of ectodermal dysplasia?

Does everyone with a specific GJB6 gene mutation for Clouston Syndrome have features of this condition?

What does genotype-phenotype correlation mean, and is this seen in Clouston syndrome?

Is Clouston Syndrome more common in certain ethnicities?

Are GJB6 gene mutations associated with any other condition besides Clouston Syndrome?

If a person is affected with Clouston Syndrome and has a known GJB6 gene mutation, what is the chance that his/her children will be affected?

If a child has a GJB6 gene mutation for Clouston Syndrome, how often is this inherited from their mother or father?

When a child has a change or mutation in the GJB6 gene, it is most often passed down or inherited from a parent. A small percentage of the time there is no family history and the change in the GJB6 gene is a new change in the child's DNA.

Are there other types of ectodermal dysplasia?

Clouston syndrome is just one of over 150 types of ectodermal dysplasias. In these conditions, the skin, hair, nails, teeth, and/or sweat glands can be affected. Not all of these are affected in every type of ectodermal dysplasia.

Does everyone with a specific GJB6 gene mutation for Clouston Syndrome have features of this condition?

Almost everyone with a specific GJB6 gene mutation for Clouston syndrome has hair, skin, and/or nail findings. The specific features and the severity of the features can be different for different people.

What does genotype-phenotype correlation mean, and is this seen in Clouston syndrome?

Genotype-phenotype correlation means that a specific change in a gene causes specific medical concerns. There is genotype-phenotype correlation for GJB6 gene mutations and Clouston syndrome:

  • The p.Gly11Arg and p.Ala88Val mutations in the GJB6 gene can be associated with clinical features similar to those seen in pachyonychia congenita. Features can include malformed nails, thickened and blistered skin on the palms of the hands and the soles of the feet, white patches on the inside of the tongue and cheeks, bumps on the skin, cysts in specific areas of the body, and excessive sweating on the palms and soles.
  • In one Chinese family, the p.Gly11Arg mutation in the GJB6 gene only caused hair and nail abnormalities. No skin abnormalities were seen.
Are GJB6 gene mutations associated with any other condition besides Clouston Syndrome?

GJB6 gene mutations are associated with other conditions. They are the following:

  1. The p.Thr5Met and p.Ala40Val mutations in the GJB6 gene are associated with a dominant form of hearing loss. If someone has one of these GJB6 gene mutations, they typically develop hearing loss in childhood. Hearing loss is usually moderate-severe.
  2. If someone has two GJB6 gene mutations (one on each GJB6 gene), they can have a recessive form of hearing loss.
  3. If someone has one GJB2 gene mutation plus one GJB6 gene mutation, they can have a recessive form of hearing loss.
  4. A GJB6 gene mutation has been previously reported in someone with keratitis-ichthyosis-deafness (KID) syndrome and congenital atrichia (absence or loss of hair).
If a person is affected with Clouston Syndrome and has a known GJB6 gene mutation, what is the chance that his/her children will be affected?

If a person is affected with Clouston syndrome and has a known GJB6 gene mutation, there is a 50% chance that each of his/her children will be affected. However, the clinical features and severity of these features cannot be predicted.

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