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Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.
BMC Med Genomics. 2022 04 14; 15(1):82.BM

Abstract

BACKGROUND

Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications including neurovascular diseases. Biallelic pathogenic variants in the pericentrin gene (PCNT) have been implicated in its pathogenesis.

CASE PRESENTATION

We performed whole-exome sequencing to ascertain the diagnosis of a 2 year and 6 months old boy who presented with severe failure to thrive, microcephaly, and facial gestalt suggestive of MOPD Type II which included features such as retrognathia, small ears, prominent nasal root with a large nose, microdontia, sparse scalp hair, bilateral fifth finger clinodactyly. He had a small ostium secundum atrial septal defect and bilaterally small kidneys. Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II was confirmed based on a pathogenic compound heterozygous frameshift variant in the PCNT gene c.5059_5060delAA | p. Asn1687fs (novel variant) and c.9535dup (p. Val3179fs). His parents were found to be heterozygous carriers for the variants.

CONCLUSION

We report a novel frameshift variant in the PCNT gene and a previously unreported phenotype for Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II.

Authors+Show Affiliations

Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. dineshani.sirisena@gmail.com.Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.Post Graduate Department of Bioscience, Sardar Patel University, Vallabh Vidyanagar, Gujarat, India.Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

35422036

Citation

Hettiarachchi, D, et al. "Novel Frameshift Variant in the PCNT Gene Associated With Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and Small Kidneys." BMC Medical Genomics, vol. 15, no. 1, 2022, p. 82.
Hettiarachchi D, Subasinghe SMV, Anandagoda GG, et al. Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys. BMC Med Genomics. 2022;15(1):82.
Hettiarachchi, D., Subasinghe, S. M. V., Anandagoda, G. G., Panchal, H., Lai, P. S., & Dissanayake, V. H. W. (2022). Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys. BMC Medical Genomics, 15(1), 82. https://doi.org/10.1186/s12920-022-01226-8
Hettiarachchi D, et al. Novel Frameshift Variant in the PCNT Gene Associated With Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and Small Kidneys. BMC Med Genomics. 2022 04 14;15(1):82. PubMed PMID: 35422036.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys. AU - Hettiarachchi,D, AU - Subasinghe,S M V, AU - Anandagoda,G G, AU - Panchal,Hetalkumar, AU - Lai,P S, AU - Dissanayake,V H W, Y1 - 2022/04/14/ PY - 2021/11/10/received PY - 2022/03/29/accepted PY - 2022/4/15/entrez PY - 2022/4/16/pubmed PY - 2022/4/19/medline SP - 82 EP - 82 JF - BMC medical genomics JO - BMC Med Genomics VL - 15 IS - 1 N2 - BACKGROUND: Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications including neurovascular diseases. Biallelic pathogenic variants in the pericentrin gene (PCNT) have been implicated in its pathogenesis. CASE PRESENTATION: We performed whole-exome sequencing to ascertain the diagnosis of a 2 year and 6 months old boy who presented with severe failure to thrive, microcephaly, and facial gestalt suggestive of MOPD Type II which included features such as retrognathia, small ears, prominent nasal root with a large nose, microdontia, sparse scalp hair, bilateral fifth finger clinodactyly. He had a small ostium secundum atrial septal defect and bilaterally small kidneys. Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II was confirmed based on a pathogenic compound heterozygous frameshift variant in the PCNT gene c.5059_5060delAA | p. Asn1687fs (novel variant) and c.9535dup (p. Val3179fs). His parents were found to be heterozygous carriers for the variants. CONCLUSION: We report a novel frameshift variant in the PCNT gene and a previously unreported phenotype for Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II. SN - 1755-8794 UR - https://www.unboundmedicine.com/medline/citation/35422036/Novel_frameshift_variant_in_the_PCNT_gene_associated_with_Microcephalic_Osteodysplastic_Primordial_Dwarfism__MOPD__Type_II_and_small_kidneys_ L2 - https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-022-01226-8 DB - PRIME DP - Unbound Medicine ER -