title: Severe neonatal spondylometaphyseal dysplasia in two siblings.
abstract: We report on two siblings with a severe neonatal form of spondylometaphyseal dysplasia (SMD). Similar cases have been reported in four publications. Analysis of pedigree data from the original and present families suggests an autosomal recessive mode of inheritance, although parental gonadal mosaicism is also possible. The similarities in the phenotype between our patients and spondyloepimetaphyseal dysplasia congenita (SEMDC) and spondyloepimetaphyseal dysplasia Strudwick (SEMDS) type, indicated that these patients could have a defect in the COL2A1 gene. Molecular analysis of genomic DNA of these patients excluded this gene. Another potential candidate gene PTHR1, was also analyzed in the selected regions and no mutation was found. This gene is probably causative in the Jansen type of SMD, which shares some phenotypic features with the siblings whom we documented. Our results indicate that a new candidate gene for the reported form of SMD should be sought.
authors.affiliation: Center for Gene Therapy, Tulane University Health Sciences Center, New Orleans, Louisiana, USA. mczarnyr@tulane.edu
authors.forename: Malwina
authors.initials: M
authors.lastname: Czarny-Ratajczak
authors.forename: Krystyna
authors.initials: K
authors.lastname: Chrzanowska
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Bieganski
authors.forename: Jerzy
authors.initials: J
authors.lastname: Sulko
authors.forename: Dobromila
authors.initials: D
authors.lastname: Baranska
authors.forename: Beata
authors.initials: B
authors.lastname: Kocyla-Karczmarewicz
authors.forename: Lukasz
authors.initials: L
authors.lastname: Kuszel
authors.forename: Lucjusz
authors.initials: L
authors.lastname: Jakubowski
authors.forename: Kryspin
authors.initials: K
authors.lastname: Niedzielski
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kozlowski
mesh_terms: D002648:Child; D024043:Collagen Type II / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D044168:Receptor, Parathyroid Hormone, Type 1 / Q000235:genetics; D012720:Severity of Illness Index; D035781:Siblings
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; C473449:PTH1R protein, human; D044168:Receptor, Parathyroid Hormone, Type 1