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Abstract
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.
Highlights
Tricho-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
Tricho-rhino-phalangeal syndrome (TRPS) is a malformation syndrome characterized by short stature, sparse and slowly growing hair, a distinctive facies with rarefaction of lateral eyebrows, bulbous nasal tip, a high philtrum and thin upper lip
TRPS is usually inherited in an autosomal dominant manner [4], and caused by pathogenic mutations in the TRPS1 gene (OMIM 604386), located on chromosome 8q23.3 and encoding a zinc finger transcriptional repressor with 2 potential nuclear localization signals and 9 different zinc-finger motifs [5]
Summary
Our 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.
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