TY - JOUR
T1 - Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
AU - Breet, Hanna
AU - Vos, Yvonne J.
AU - Dijkhuizen, Trijnie
AU - Voorbij-Vierstra, Carlijn L.
AU - Bolling, Maria C.
AU - van den Akker, Peter C.
N1 - Publisher Copyright:
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2023/3
Y1 - 2023/3
N2 - 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.
AB - 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.
KW - chromosomal aberrations
KW - clinical genetics
KW - genodermatosis
KW - trisomy rescue
KW - uncombable hair syndrome
KW - uniparental disomy
U2 - 10.1002/ajmg.a.63086
DO - 10.1002/ajmg.a.63086
M3 - Letter
AN - SCOPUS:85144374155
SN - 1552-4825
SP - 896
EP - 898
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
ER -