Marshall syndrome: Clinical, radiological and genetical features of a tunisian family

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Published Jul 24, 2015
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Vol. 93 No. 3 (2015): Issue Mar 2015

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Sakka Rania
Kerkeni Emna
Chaabouni Myriam
Chioukh Fatma Zohra
Ben Amor Sofiène
M'rad Ridha
Ben Yahia Salim
Chaabouni Habiba
Monastiri Kamel

Abstract

Background: Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and sensorineural hearing loss. It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI. Stickler syndrome is the principal differential diagnosis of Marshall syndrome.
Aim: Clinical and radiological study of Marshall syndrome in a Tunisian family with a linkage study of the COL11A1 gene to this disease.
Methods: We report the clinical and the radiological findings of a Tunisian family including 8 members affected by Marshall syndrome. The linkage of the COL11A1 gene to this disease was tested using the polymorphic microsatellite markers of DNA.
Results: A variability of the clinical expression of Marshall syndrome was reported. Specific Marshall phenotype and an overlapping phenotype between the Marshall and Stickler syndromes were observed among the affected members of this family. The ocular manifestations were also heterogeneous. Marshall syndrome’s specific radiological signs were found. The linkage study supports the linkage of the abnormal phenotype to the COL11A1 gene.
Conclusion: There is a variability of the clinical expression among the affected members of the study’s family. We will continue searching the causative mutation to establish a clear genotype- phenotype correlation

Keywords:

Marshall syndrome- Stickler syndrome- Variable expressivityCOL11A1- Linkage study

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