Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome

TY - JOUR

T1 - Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome

AU - Tziotzios, C.

AU - Petrof, G.

AU - Liu, L.

AU - Verma, A.

AU - Wedgeworth, E. K.

AU - Mellerio, J. E.

AU - McGrath, J. A.

PY - 2014/11

Y1 - 2014/11

N2 - BackgroundSchöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A.ObjectivesTo document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS.MethodsClinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of WNT10A.ResultsMost subjects had bilateral eyelid cysts and some degree of palmoplantar keratoderma, although nail, hair, and teeth abnormalities were variably present. Bi-allelic pathogenic mutations in WNT10A were found in all seven subjects. New mutations comprised p.Glu390*, p.Ser270Arg, and p.Cys362Arg; the recurrent mutations were p.Cys107* and p.Ala131Thr.ConclusionsThis study reveals the range of ectodermal pathology in cases of SSPS that result from WNT10A mutations. Eyelid cysts provide a useful clinical clue to diagnosing SSPS which may be less rare than is currently appreciated.

AB - BackgroundSchöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A.ObjectivesTo document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS.MethodsClinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of WNT10A.ResultsMost subjects had bilateral eyelid cysts and some degree of palmoplantar keratoderma, although nail, hair, and teeth abnormalities were variably present. Bi-allelic pathogenic mutations in WNT10A were found in all seven subjects. New mutations comprised p.Glu390*, p.Ser270Arg, and p.Cys362Arg; the recurrent mutations were p.Cys107* and p.Ala131Thr.ConclusionsThis study reveals the range of ectodermal pathology in cases of SSPS that result from WNT10A mutations. Eyelid cysts provide a useful clinical clue to diagnosing SSPS which may be less rare than is currently appreciated.

UR - http://www.scopus.com/inward/record.url?scp=84911391490&partnerID=8YFLogxK

U2 - 10.1111/bjd.13158

DO - 10.1111/bjd.13158

M3 - Article

AN - SCOPUS:84911391490

SN - 0007-0963

VL - 171

SP - 1211

EP - 1214

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 5

ER -