A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

BMC Medical Genetics

Case Report

S. Chafai Elalaoui¹  A. Sefiani¹  W. Smaili¹  M. Zerkaoui¹  K. Heinimann²  S. Meier² 

[1] Centre de Génomique Humaine – Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco;Département de Génétique Médicale, Institut National d’Hygiène, 27 Avenue IbnBatouta, B. P.769, 11400, Rabat, Morocco;Medical Genetics, University Hospital Basel, Schoenbeinstrasse 40, 4031, Basel, Switzerland;

关键词: Tricho-rhino-phalangeal syndrome type III;    TRPS1;    Exon 6;    Novel missense mutation;    Moroccan family;   

DOI  :  10.1186/s12881-017-0413-8

 received in 2016-08-24, accepted in 2017-04-21,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundTricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation.Case presentationWe report the first case of a Moroccan family, a father and his three children, in which the diagnosis of type III TRPS was suspected based on severe clinical and radiological features. Molecular analysis of the TRPS1 gene revealed a novel missense mutation in exon 6, (p.Ala932Ser), located in the GATA-type DNA-binding zinc finger domain.ConclusionOur observations in this kindred support the previous genotype-phenotype results suggesting that patients with more pronounced facial characteristics and more severe shortening of hands and feet are more likely to have mutation in exon 6 of TRPS1.

【 授权许可】

CC BY   
© The Author(s). 2017