Uncombable Hair Syndrome found in children with parent gene mutations

spinonews Uncombable hair syndrome

The baby girl Taylor born with huge hair as her mother described as ‘young Einstein’. But later on they have discovered as rare condition known as Uncombable hair syndrome.

The hair syndrome popularly called spun glass hair syndrome, pili trianguli et canaliculi, or cheveux incoiffables. As Three gene mutations responsible for the condition explained in Human genetics. This particular gene responsible for condition control over proteins in hair shaft.

The lead author Regina Betz, a professor of dermatogenetics at the University of Bonn in Germany have discovered the PADI3 gene. It is responsible for causing uncombable hair syndrome when a child inherits two copies of the mutated gene. McGowans first consulted Regina Betz then sent blood samples to Germany to verify the cause and condition of Taylor. Also to test whether parents are responsible for gene mutation.

Uncombable Hair syndrome PADI3 gene mutations

Test results declared Taylor have the PADI3 gene mutation, and both Cara and her husband Tom are carriers of one copy of it. It’s a recessive gene, so if you inherit only one copy from a parent like Cara and Tom did you will not have uncombable syndrome.

Both Cara and Tom have brown hair, which has none of the same characteristics as Taylor’s hair. PADI3 codes for an enzyme called peptidylarginine deiminase 3. The two other genes that can result in the condition are TGM3 (transglutaminase 3), and TCHH (trichohyalin). All three play a role in the formation of the hair shaft.

In people with the condition, about 50% of the time the hair shaft will be heart-shaped or triangular instead of round, and have grooves along the entire length of the hair shaft.

Betz thinks the condition might be more common than thought. She has blood samples from an additional 70 people with it and thinks there may be thousands who have the syndrome.

Although they will always have the mutation. Sometimes people outgrow the symptoms as they get older, and their hair quality changes over time.

Cara McGowan has connected with other people who have the condition around the world. Some have outgrown it, and some have not. Hoping to raise awareness about the condition and encourage more tolerance of people’s unique characteristics, she said. Although most people have been supportive, that’s not always been the case some have laughed and pointed at Taylor’s hair.