Skeletal Dysplasias

Olney, Robert C.; Bober, Michael B.

doi:10.1007/978-3-319-73782-9_8

Cited by 2 publications

(3 citation statements)

References 89 publications

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“…In addition, mutations in PTH1R cause skeletal dysplasia and severe growth retardation. There are currently 436 descriptions of skeletal dysplasia syndromes, and skeletal dysplasia syndromes are the most common cause of short stature skeletal dysplasia (Olney & Bober, 2018). Bone lengthening is caused by an increase in chondrocyte number, synthesis of chondrocytes matrix, and substantial enlargement of chondrocyte.…”

Section: Discussionmentioning

confidence: 99%

“…A decrease in the number of hypertrophic chondrocytes, results in premature fusion of the growth plate and shortened long bones, with resultant short limbs (Qiu et al., 2015). Defects in endochondral bone formation, and the skull base and midface are affected, resulting in midface hypoplasia, anatomical abnormalities of the eustachian tube, and stenosis of the foramen magnum, with obstruction of cerebral circulation leading to hydrocephalus (Olney & Bober, 2018). In addition, all the patients in this family had normal serum calcium levels.…”

Section: Discussionmentioning

confidence: 99%

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Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance

Wang,

Zhao,

Zhang

et al. 2023

Molec Gen & Gen Med

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BackgroundMutations in PTH1R are associated with Jansen‐type metaphyseal chondrodysplasia (JMC), Blomstrand osteochondrodysplasia (BOCD), Eiken syndrome, enchondroma, and primary failure of tooth eruption (PFE). Inheritance of the PTH1R gene can be either autosomal dominant or autosomal recessive, indicating the complexity of the gene. Our objective was to identify the phenotypic differences in members of a family with a novel PTH1R mutation.MethodsThe proband was a 13‐year, 6‐month‐old girl presenting with short stature, abnormal tooth eruption, skeletal dysplasia, and midface hypoplasia. The brother and father of the proband presented with short stature and abnormal tooth eruption. High‐throughput sequencing was performed on the proband, and the variant was confirmed in the proband and other family members by Sanger sequencing. Amino acid sequence alignment was performed using ClustalX software. Three‐dimensional structures were analyzed and displayed using the I‐TASSER website and PyMOL software.ResultsHigh‐throughput genome sequencing and Sanger sequencing validation showed that the proband, her father, and her brother all carried the PTH1R (NM_000316) c.1393G>A (p.E465K) mutation. The c.1393G>A (p.E465K) mutation was novel, as it has not been reported in the literature database. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the p.E465K variant was considered to have uncertain significance. Biological information analysis demonstrated that this identified variant was highly conserved and highly likely pathogenic.ConclusionsWe identified a novel heterozygous mutation in the PTH1R gene leading to clinical manifestations with incomplete penetrance that expands the spectrum of known PTH1R mutations.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance

Wang,

Zhao,

Zhang

et al. 2023

Molec Gen & Gen Med

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“…Blomstrand syndrome is an autosomal recessive chondrodysplasia due to inactivating mutations in the gene encoding the parathyroid hormone receptor; it is also associated with osteosclerosis, lungs hypoplasia and neonatal death but is mainly characterized by short limbs. Koide dysplasia is similarly marked by abnormal bone formation but with micromelia and achondrogenesis 19,20 …”

Section: Discussionmentioning

confidence: 99%

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

Rameh

Mégarbané

Jalbout³

et al. 2022

Prenatal Diagnosis

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Introduction Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3. Case report We report a consanguineous family with three affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra‐uterine demise and one neonatal death, without identifying any genetic disorder. During the couple's most recent pregnancy, fetal anomaly sonogram and fetal CT scan revealed microcephaly, intracranial calcifications, exophthalmos, hypertelorism, depressed nasal bridge, midface hypoplasia and thoracic hypoplasia. Fetal blood sampling for whole exome sequencing revealed a novel pathogenic homozygous variant c.1363+1G > A in the FAM20 C gene associated with Raine syndrome. Delivery occurred at 26 weeks of gestation after rupture of membranes followed by neonatal death due to respiratory failure. Review A review of the distinctive features of Raine syndrome, the contribution of different prenatal imaging modalities (Ultrasound, Computed Tomography and Magnetic Resonance Imaging) in making the diagnosis and the molecular characterization of this disorder is provided.

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Skeletal Dysplasias

Cited by 2 publications

References 89 publications

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

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