Hip dislocation in 3-M syndrome

Badina, Alina; Péjin, Zagorka; Odent, Thierry; Buzescu, Alexandru; Huber, Céline; Cormier‐Daire, Valérie; Glorion, Christophe; Pannier, Stéphanie

doi:10.1097/mcd.0b013e328343f958

Cited by 7 publications

(1 citation statement)

References 11 publications

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“…3-M syndrome is an autosomal recessive disorder characterized by main skeletal anomalies. The patients showed long and slender tubular bones, delayed bone age, and other skeletal manifestations [ 61 ]. Although there has been no direct evidence demonstrating the function of the TUBB2A gene in skeletal development, the interaction between TUBB2A and CUL7 suggests that TUBB2A may be involved in the skeletal phenotype after there are no pathogenic mutations in the known genes related to skeletal features.…”

Section: Discussionmentioning

confidence: 99%

Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations

et al. 2023

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Background Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic presentation. Copy-number variations in chromosome 6, such as independent 6p deletion and 6p duplication, have been reported in several live-born infants and present widespread abnormalities such as intellectual disability, growth deficiency, developmental delay, and multiple dysmorphic facial features. However, a contiguous deletion and duplication in chromosome 6p regions have been reported in only a few cases. Case presentation In this study, we reported the first duplication of chromosome band 6p25.3–p22.3 with deletion of 6p25.3 in a pedigree. This is the first case reported involving CNVs in these chromosomal regions. In this pedigree, we reported a 1-year-old boy with maternal 6p25-pter duplication characterized by chromosome karyotype. Further analysis using CNV-seq revealed a 20.88-Mb duplication at 6p25.3-p22.3 associated with a contiguous 0.66-Mb 6p25.3 deletion. Whole exome sequencing confirmed the deletion/duplication and identified no pathogenic or likely pathogenic variants related with the patient´s phenotype. The proband presented abnormal growth, developmental delay, skeletal dysplasia, hearing loss, and dysmorphic facial features. Additionally, he presented recurrent infection after birth. CNV-seq using the proband´s parental samples showed that the deletion/duplication was inherited from the proband´s mother, who exhibited a similar phenotype to the proband. When compared with other cases, this proband and his mother presented a new clinical finding: forearm bone dysplasia. The major candidate genes contributing to recurrent infection, eye development, hearing loss features, neurodevelopmental development, and congenital bone dysplasia were further discussed. Conclusions Our results showed a new clinical finding of a contiguous deletion and duplication in chromosome 6p regions and suggested candidate genes associated with phenotypic features, such as FOXC1, SERPINB6, NRN1, TUBB2A, IRF4, and RIPK1.

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Section: Discussionmentioning

confidence: 99%