Frontometaphyseal dysplasia is a rare genetic syndrome affecting the skeletal system and connective tissue. It is believed to be inherited as an X-linked trait. Features of frontometaphyseal dysplasia overlap with other skeletal dysplasias. Prominent supraorbital ridges, radiologic evidence of cranial hyperostosis, and flared metaphyses are characteristic. Scoliosis, a rare associated finding, is usually mild, and familial progressive scoliosis has not been reported so far. The skeletal dysplasia and the associated clinical findings show significant intra- and interfamilial variability. The syndrome has been suggested to be an allelic variant of the Melnick-Needles osteodysplasty, an X-linked (dominant) entity. We present two families with frontometaphyseal dysplasia, in which both males and females showed the facial and skeletal features of the syndrome in association with progressive scoliosis. Some of the affected members also had hearing loss and urogenital anomalies, supporting the existence of the recently suggested entity "fronto-otopalatodigital-osteodysplasty syndome".
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Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.
Am J Med Genet A
October 2024
Department of Women's and Children's Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.
Article Synopsis
- Pathogenic variants in the FLNA gene lead to various X-linked developmental disorders, influenced by either increased or decreased filamin A protein levels, which can be understood as gain- or loss-of-function issues.
- Embryonic lethality is typically associated with hemizygosity for deletions or truncating variants in FLNA, but the study reveals that three specific variants involving the hinge-1 region result in distinct clinical conditions without causing embryonic death in affected males.
- The findings suggest that while hinge-1 typically provides flexibility to filamin A and is involved in important cellular signaling, its impairment can lead to viable, albeit varied, phenotypes instead of lethal outcomes in male patients.
Frontometaphyseal dysplasia 2 associated with thoracic deformity, and pulmonary arterial hypertension: a case report and review of literature.
Arch Argent Pediatr
December 2022
Binzhou Medical University, Yantai, Shandong Province, China.
Frontometaphyseal dysplasia 2 (FMD2) is a rare disease caused by MAP3K7 gene mutation. We report a 7-year-old sporadic patient with FMD2 due to a de novo splicing variant in MAP3K7. He has the common characteristics of FMD2 but also has some characteristics that have never been reported, which increases the clinical phenotype of FMD2.
View Article and Find Full Text PDFA novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.
Clin Genet
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Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
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Hum Mutat
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Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Mitogen-activated protein 3 kinase 7 (MAP3K7) encodes the ubiquitously expressed transforming growth factor β-activated kinase 1, which plays a crucial role in many cellular processes. Mutationsin the MAP3K7 gene have been linked to two distinct disorders: frontometaphyseal dysplasia type 2 (FMD2) and cardiospondylocarpofacial syndrome (CSCF). The fact that different mutations can induce two distinct phenotypes suggests a phenotype/genotype correlation, but no side-by-side comparison has been done thus far to confirm this.
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Adv Exp Med Biol
January 2022
Second Department of Neurology, National Kapodistrian University of Athens, Attikon Hospital, Athens, Greece.
Introduction: Frontometaphyseal dysplasia 1 (FMD1) is a rare X-linked craniofacial syndrome belonging in the otopalatodigital spectrum of disorders. Here we present a case with severe FMD1 that was caused by a mutation in the FLNA gene located on Xq28.
Methods: A diagnosis for FMD1 was clinically set for a 22-year-old male who presented with cranial hyperostosis with marked supraorbital ridge, hypertelorism, progressive mixed hearing loss, partial anodontia, scoliosis, generalized skeletal dysplasia, and muscle atrophy.
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