Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

Hanna Breet, Yvonne J. Vos, Trijnie Dijkhuizen, Carlijn L. Voorbij-Vierstra, Maria C. Bolling, Peter C. van den Akker*

*Corresponding author for this work

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Abstract

Uncombable hair syndrome is a hair shaft condition in which the hair is frizzy, light in color (silver to light brown), and cannot be combed flat. Autosomal dominant (with complete or incomplete penetrance), autosomal recessive, and sporadic cases have been reported. In 2016 causative mutations in three genes were identified for uncombable hair syndrome, all with an autosomal recessive inheritance pattern: PADI3, TGM3, and TCHH. In many cases, however, there is still no molecular diagnosis. Here, we describe a case of autosomal recessive uncombable hair syndrome resulting from maternal uniparental disomy of chromosome 1.

Original languageEnglish
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusE-pub ahead of print - 21-Dec-2022

Keywords

  • chromosomal aberrations
  • clinical genetics
  • genodermatosis
  • trisomy rescue
  • uncombable hair syndrome
  • uniparental disomy

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