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. 2017 May 3;18(1):50.
doi: 10.1186/s12881-017-0413-8.

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

W Smaili  1   2 , S Chafai Elalaoui  3   4 , S Meier  5 , M Zerkaoui  1   2 , A Sefiani  1   2 , K Heinimann  5
Affiliations

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

W Smaili et al. BMC Med Genet. .

Abstract

Background: 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. 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 presentation: We 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.

Conclusion: 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.

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

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Figures

Fig. 1
Fig. 1
Pedigree of the family. The arrow indicates patient 1 which is the proband
Fig. 2
Fig. 2
Typical dysmorphological features of TRPS III in the family members showing thick eyebrows with lateral rarefaction, characteristic pear-shaped nose, long philtrum and thin upper lip. a- Proband, b- Sister, c- Brother, d- Father
Fig. 3
Fig. 3
Characteristic hands and feet disclosing severe brachydactyly with syndactyly in the family members. a- Proband, b- Sister, c- Brother, d- Father. X-rays of the proband show misalignment of the middle and distal phalanges predominant at the third and fourth fingers with cone shaped epiphyses in hands and feet
Fig. 4
Fig. 4
Electrophoregram showing above the wild-type sequence, and below the heterozygous sequence variant c.2794G > T identified in exon 6 of the TRPS1 gene
See this image and copyright information in PMC

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