Posters

An unusual mutation in a Peters plus syndrome

Poster Details

First Author: R.KMIHA TUNISIA

Co Author(s):    I. Abid   K. Maaloul   Z. Gharbi   S. Affes   S. Gargouri   J. Feki     

Abstract Details

Purpose:

Peters plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye with other multiple congenital anomalies, and a developmental delay. Major symptoms are extremely variable anterior chamber anomalies, cupid bow of the upper lip, cleft lip and palate, short stature, broad hands and feet, and variable mental delay. The syndrome follows an autosomal recessive pattern of inheritance. Mutations in the B3GALTL gene have been observed in mostly all patients with Peter’s syndrome. We describe the case of a Peter’s plus syndrome with an unusual B3GALTL mutation.

Setting:

Ophthalmology department; Habib Bourguiba Hospital, Sfax, Tunisia

Methods:

'-complete eye examination -general examination -genetic study

Results:

A child born of a non-inbred marriage with bilateral corneal opacities. General examination revealed a cleft lip and palate and a cardiac abnormality and a single right kidney. A genetic study looking for a possible mutation revealed a nonsense mutation at exon 4 c.349 insA (p.S80K fs*7) of the paternal B3GALTL gene and a mutation c.597-2A

Conclusions:

Peters plus syndrome is a rare disorder with autosomal recessive transmission, several mutations have been reported in the literature proving the possibility of having composite heterozygous individuals carrying two different mutated alleles of the same gene and expressing the PPS phenotype.

Financial Disclosure:

None