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Jihong Bae  (Bae J) 1 Article
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Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
Jihong Bae, Hong Seok Choi, So Young Park, Do-Eun Lee, Sihoon Lee
Endocrinol Metab. 2018;33(2):252-259.   Published online June 21, 2018
DOI: https://doi.org/10.3803/EnM.2018.33.2.252
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  • 10 Web of Science
  • 8 Crossref
AbstractAbstract PDFPubReader   ePub   
Background

Autosomal-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.

Methods

Whole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control.

Results

We 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.

Conclusion

Among 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.

Citations

Citations to this article as recorded by  
  • A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
    Mirjam E.A. Scheffer-Rath, Hermine E. Veenstra-Knol, Annemieke M. Boot
    Bone Reports.2023; 19: 101699.     CrossRef
  • Bioactive phytoconstituents as potent inhibitors of casein kinase-2: dual implications in cancer and COVID-19 therapeutics
    Farah Anjum, Md Nayab Sulaimani, Alaa Shafie, Taj Mohammad, Ghulam Md. Ashraf, Anwar L. Bilgrami, Fahad A. Alhumaydhi, Suliman A. Alsagaby, Dharmendra Kumar Yadav, Md. Imtaiyaz Hassan
    RSC Advances.2022; 12(13): 7872.     CrossRef
  • Characterization and expression profiling of G protein-coupled receptors (GPCRs) in Spodoptera litura (Lepidoptera: Noctuidae)
    Yanxiao Li, Han Gao, Hui Zhang, Runnan Yu, Fan Feng, Jing Tang, Bin Li
    Comparative Biochemistry and Physiology Part D: Genomics and Proteomics.2022; 44: 101018.     CrossRef
  • Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height
    Nora E. Renthal, Priyanka Nakka, John M. Baronas, Henry M. Kronenberg, Joel N. Hirschhorn
    Journal of Bone and Mineral Research.2020; 36(12): 2300.     CrossRef
  • Search for Novel Mutational Targets in Human Endocrine Diseases
    So Young Park, Myeong Han Seo, Sihoon Lee
    Endocrinology and Metabolism.2019; 34(1): 23.     CrossRef
  • A Heterozygous Splice‐Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals
    Monica Reyes, Bert Bravenboer, Harald Jüppner
    Journal of Bone and Mineral Research.2019; 34(3): 482.     CrossRef
  • A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum
    Jia Huang, Hong-Yan Liu, Rong-Rong Wang, Hai Xiao, Dong Wu, Tao Li, Ying-Hai Jiang, Xue Zhang
    Chinese Medical Journal.2019; 132(14): 1681.     CrossRef
  • Parathyroid Hormone-Related Protein in the Hand or Out of Hand?
    Sang Wan Kim
    Endocrinology and Metabolism.2018; 33(2): 202.     CrossRef
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