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A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
Mol Genet Genomic Med. 2021 09; 9(9):e1761.MG

Abstract

BACKGROUND

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene.

METHODS

We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II. Subsequently, next-generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively.

RESULTS

The patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed bone age (approximately 7 years). No abnormality in growth hormone or insulin-like growth factor 1 was detected. Notably, the patient was found to carry a novel homozygous PCNT mutation (c.6157G>T, p.Glu2053Ter), which was inherited from her healthy heterozygous parents. Meanwhile, significant deficiency of PCNT expression was identified in the patient.

CONCLUSION

Our study identified a novel PCNT mutation associated with MOPD II, expanded the mutation spectrum of the PCNT gene and improved our understanding of the molecular basis of MOPD II.

Authors+Show Affiliations

Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.Department of Endocrinology, Kunming Children's Hospital, Kunming, Yunnan, China.Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.Department of Endocrinology, Kunming Children's Hospital, Kunming, Yunnan, China.Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.Department of Pharmacy, Kunming Children's Hospital, Kunming, Yunnan, China.Department of Clinical Laboratory, Kunming Children's Hospital, Kunming, Yunnan, China.Department of Endocrinology, Kunming Children's Hospital, Kunming, Yunnan, China.Department of Endocrinology, Kunming Children's Hospital, Kunming, Yunnan, China.Department of Endocrinology, Kunming Children's Hospital, Kunming, Yunnan, China.Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

34331829

Citation

Liu, Haifeng, et al. "A Novel Homozygous Mutation of the PCNT Gene in a Chinese Patient With Microcephalic Osteodysplastic Primordial Dwarfism Type II." Molecular Genetics & Genomic Medicine, vol. 9, no. 9, 2021, pp. e1761.
Liu H, Tao N, Wang Y, et al. A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II. Mol Genet Genomic Med. 2021;9(9):e1761.
Liu, H., Tao, N., Wang, Y., Yang, Y., He, X., Zhang, Y., Zhou, Y., Liu, X., Feng, X., Sun, M., Xu, F., Su, Y., & Li, L. (2021). A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II. Molecular Genetics & Genomic Medicine, 9(9), e1761. https://doi.org/10.1002/mgg3.1761
Liu H, et al. A Novel Homozygous Mutation of the PCNT Gene in a Chinese Patient With Microcephalic Osteodysplastic Primordial Dwarfism Type II. Mol Genet Genomic Med. 2021;9(9):e1761. PubMed PMID: 34331829.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II. AU - Liu,Haifeng, AU - Tao,Na, AU - Wang,Yan, AU - Yang,Yang, AU - He,Xiaoli, AU - Zhang,Yu, AU - Zhou,Yuantao, AU - Liu,Xiaoning, AU - Feng,Xingxing, AU - Sun,Meiyuan, AU - Xu,Fang, AU - Su,Yanfang, AU - Li,Li, Y1 - 2021/07/31/ PY - 2021/05/15/revised PY - 2020/06/27/received PY - 2021/07/08/accepted PY - 2021/8/1/pubmed PY - 2022/3/17/medline PY - 2021/7/31/entrez KW - MOPD II KW - PCNT gene KW - growth restriction KW - microcephaly KW - novel homozygous mutation SP - e1761 EP - e1761 JF - Molecular genetics & genomic medicine JO - Mol Genet Genomic Med VL - 9 IS - 9 N2 - BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene. METHODS: We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II. Subsequently, next-generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively. RESULTS: The patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed bone age (approximately 7 years). No abnormality in growth hormone or insulin-like growth factor 1 was detected. Notably, the patient was found to carry a novel homozygous PCNT mutation (c.6157G>T, p.Glu2053Ter), which was inherited from her healthy heterozygous parents. Meanwhile, significant deficiency of PCNT expression was identified in the patient. CONCLUSION: Our study identified a novel PCNT mutation associated with MOPD II, expanded the mutation spectrum of the PCNT gene and improved our understanding of the molecular basis of MOPD II. SN - 2324-9269 UR - https://www.unboundmedicine.com/medline/citation/34331829/A_novel_homozygous_mutation_of_the_PCNT_gene_in_a_Chinese_patient_with_microcephalic_osteodysplastic_primordial_dwarfism_type_II_ L2 - https://doi.org/10.1002/mgg3.1761 DB - PRIME DP - Unbound Medicine ER -