A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II. Issue 9 (31st July 2021)

• Record Type: Journal Article
• Authors: Liu, Haifeng; Tao, Na; Wang, Yan; Yang, Yang; He, Xiaoli; Zhang, Yu; Zhou, Yuantao; Liu, Xiaoning; Feng, Xingxing; Sun, Meiyuan; Xu, Fang; Su, Yanfang; Li, Li
• Is Part Of: Molecular genetics & genomic medicine. Volume 9:Issue 9(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-07-31
• Subjects: growth restriction -- microcephaly -- MOPD II -- novel homozygous mutation -- PCNT gene; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1761
• Languages: English
• ISSNs: 2324-9269

Abstract

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. Abstract : We describe a rare case of MOPD II in a 10‐year and 7‐month old Chinese female. A novel homozygous mutation was identified in exon 30 of the PCNT gene (c.6157G>T, p.Glu2053Ter) by next‐generation sequencing. Meanwhile, flow cytometry revealed a deficiency in the PCNT protein expression of the patient. This is the first report of a Chinese MOPD II patient with a homozygous PCNT gene mutation.