Ha-Vinh et al. (2004) described a child with Bruck syndrome who was the offspring of healthy nonconsanguineous Turkish parents. At birth, pterygia were present at the left elbow and at both knees, and extension of these joints was ... Ha-Vinh et al. (2004) described a child with Bruck syndrome who was the offspring of healthy nonconsanguineous Turkish parents. At birth, pterygia were present at the left elbow and at both knees, and extension of these joints was limited. Contractures were also present at the wrists, and there were bilateral clubfeet. Bilateral inguinal hernias were present. A fracture of the left arm was recognized immediately after birth, and the boy had 2 more fractures in the first 3 months of life. His urine contained high levels of hydroxyproline but low levels of collagen crosslinks degradation products. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between Bruck syndromes 1 and 2.
In 2 families with Bruck syndrome in which linkage to chromosome 17p12 was excluded, van der Slot et al. (2003) identified homozygous missense mutations in exon 17 of the PLOD2 gene (601865.0001-601865.0002). Parents of both families were heterozygous ... In 2 families with Bruck syndrome in which linkage to chromosome 17p12 was excluded, van der Slot et al. (2003) identified homozygous missense mutations in exon 17 of the PLOD2 gene (601865.0001-601865.0002). Parents of both families were heterozygous for the respective mutations. Mutation analysis of a family showing linkage to chromosome 17p12 did not reveal any mutations in the exons, intron/exon boundaries, or promoter region of the PLOD2 gene. In a child with Bruck syndrome, the offspring of healthy nonconsanguineous Turkish parents, Ha-Vinh et al. (2004) identified homozygosity for a novel mutation in exon 17 of the PLOD2 gene, resulting in an arg598-to-his substitution (601865.0003). The mutation was close to the mutations identified by van der Slot et al. (2003), suggesting a functionally important hotspot. Puig-Hervas et al. (2012) screened for mutations in 6 consanguineous unrelated Egyptian families with Bruck syndrome and identified homozygous changes in the PLOD2 gene in 4 families and in the FKPB10 gene (610968) in 2 (see 607083). Two of the probands had an LH2(long) isoform-specific homozygous mutation consisting of a single-nucleotide duplication in the alternative exon 13a of the PLOD2 gene (1559dupC; 601865.0004), indicating that specific inactivation of the longer protein isoform is sufficient to cause Bruck syndrome 2.