Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

American Journal of Medical Genetics. Part a
Samia A TemtamyHanan H Afifi

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.

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Citations

Jan 7, 2011·International Journal of Pediatric Otorhinolaryngology·Suna Tokgöz-YılmazMustafa Tekin
Mar 18, 2015·The Annals of Otology, Rhinology, and Laryngology·Yoh-Ichiro IwasaShin-Ichi Usami
Mar 24, 2017·Hormone Research in Pædiatrics·Anenisia C AndradeOla Nilsson
Nov 20, 2018·American Journal of Medical Genetics. Part a·Andrea Hanson-KahnLouanne Hudgins
Jan 5, 2011·American Journal of Medical Genetics. Part a·Hülya KayseriliZ Oya Uyguner
Jan 17, 2012·American Journal of Medical Genetics. Part a·Stuart W TompsonDaniel H Cohn
Jan 30, 2021·JBJS Case Connector·Benjamin R WilliamsJonathan N Sembrano
Jan 5, 2011·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Xi LiHongwen Deng

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