TY - JOUR
T1 - Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion
AU - Vreeburg, M.
AU - van Geel, M.
AU - van den Heuij, L. G. T.
AU - Steijlen, P. M.
AU - van Steensel, M. A. M.
PY - 2011/5
Y1 - 2011/5
N2 - Background Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear atrophic skin defects, skeletal deformities and, in many cases, mental retardation. Osteopathia striata is a nearly constant feature. Approximately 90% of patients are women. A few instances of father-to-daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded. Objectives The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient. Methods We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH. Results We demonstrate post-zygotic mosaicism for a novel deletion in the PORCN gene. Conclusions A novel PORCN deletion, present in a post-zygotic mosaic, causes focal dermal hyplasia in a male patient.
AB - Background Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear atrophic skin defects, skeletal deformities and, in many cases, mental retardation. Osteopathia striata is a nearly constant feature. Approximately 90% of patients are women. A few instances of father-to-daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded. Objectives The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient. Methods We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH. Results We demonstrate post-zygotic mosaicism for a novel deletion in the PORCN gene. Conclusions A novel PORCN deletion, present in a post-zygotic mosaic, causes focal dermal hyplasia in a male patient.
KW - focal dermal hypoplasia
KW - Goltz
KW - mosaicism
KW - PORCN
KW - WNT
U2 - 10.1111/j.1468-3083.2010.03782.x
DO - 10.1111/j.1468-3083.2010.03782.x
M3 - Article
C2 - 20626533
SN - 0926-9959
VL - 25
SP - 592
EP - 595
JO - Journal of the European Academy of Dermatology and Venereology
JF - Journal of the European Academy of Dermatology and Venereology
IS - 5
ER -