title: Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
abstract: Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI collagen. Less than 30 patients have been reported in the literature so far. It could be either of autosomal dominant (OMIM 154780) or recessive (OMIM 215150) etiology. Two sibs with OSMED are presented. They had disproportionate short stature and short limbs, distinct face with midface hypoplasia, short nose, depressed nasal bridge, long philtrum, and non-progressive sensorineural deafness. Radiological findings showed short long bones and large epiphyses with metaphyseal flaring and mild platyspondyly and coronal clefting. Homozygosity of a single nucleotide deletion in exon 55 causing a premature stop codon in exon 56 of COL11A2 was detected in the affected sibs. Parents were heterozygotes for the same mutation and interestingly, the father had mild unilateral non-progressive sensorineural deafness. This finding adds more weight that the type of mutation and location in COL11A2 are crucial in determining the phenotype. The purpose of this study is to report clinical and radiological findings in two molecularly proven Egyptian sibs with autosomal recessive OSMED.
authors.affiliation: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Dokki, Cairo, Egypt.
authors.forename: Samia A
authors.initials: SA
authors.lastname: Temtamy
authors.forename: Minna
authors.initials: M
authors.lastname: Männikkö
authors.forename: Ghada M H
authors.initials: GM
authors.lastname: Abdel-Salam
authors.forename: Nihal A
authors.initials: NA
authors.lastname: Hassan
authors.forename: Leena
authors.initials: L
authors.lastname: Ala-Kokko
authors.forename: Hanan H
authors.initials: HH
authors.lastname: Afifi
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D018389:Codon, Nonsense; D024161:Collagen Type XI / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography; D035781:Siblings
chemical_list: C499319:COL11A2 protein, human; D018389:Codon, Nonsense; D024161:Collagen Type XI