ArticleEndocrinology and metabolism (Seoul, Korea)2018
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.
Article in Endocrinology and metabolism (Seoul, Korea), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 14 citations in OpenAlex.
- Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Case Report: A novelFrontiers in endocrinology · 2026Review
- Human diseases caused by homozygous PTH1R mutations.Frontiers in endocrinology · 2025Review
- Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.medRxiv : the preprint server for health sciences · 2024Article
- A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Molecular genetics & genomic medicine · 2024Article
- A novel mutation inBone reports · 2023Article
- Bioactive phytoconstituents as potent inhibitors of casein kinase-2: dual implications in cancer and COVID-19 therapeutics.RSC advances · 2022Article
- Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.Chinese medical journal · 2019Article
- Search for Novel Mutational Targets in Human Endocrine Diseases.Endocrinology and metabolism (Seoul, Korea) · 2019Review
- A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Article
- Parathyroid Hormone-Related Protein in the Hand or Out of Hand?Endocrinology and metabolism (Seoul, Korea) · 2018Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family.
methodsWhole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control.
resultsWe selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained.
conclusionAmong them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.
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