Acromesomelic dysplasia Maroteaux‐type in patients from Vietnam

Tran, Thinh Huy; Cao, My Ha; Luong, Long Hoang; Le, Phuong Thi; Vu, Dung; Ta, Thanh Dat; Bui, The‐Hung; Nguyễn, Đức Hinh; Ta, Thanh Van; Tran, Van Khanh

doi:10.1002/ajmg.a.61192

Cited by 5 publications

(3 citation statements)

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“…To date, a total of 102 NPR2 variants (82 pathogenic and 20 likely pathogenic) have been reported in ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar). Of them, about 40 homozygous or compound heterozygous NPR2 variants are associated with AMDM [2,4,[9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24]. In this study, clinical and molecular findings of 26 patients from 22 unrelated families with a clinical diagnosis of AMDM are evaluated and genotype-phenotype correlations are investigated.…”

Section: Introductionmentioning

confidence: 99%

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience

et al. 2020

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Section: Introductionmentioning

confidence: 99%

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience

et al. 2020

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“…К основным клиническим проявлениям АМДМ относятся диспропорциональный нанизм, укорочение конечностей, главным образом за счет уменьшения длины предплечий, голеней и кистей. В большинстве описанных случаев не отмечалось интеллектуального дефицита и патологии других органов и систем [1,2,3,4,5,6,7,8]. При рентгенологическом обследовании в типичных случаях отмечаются укорочение и деформация длинных трубчатых костей с гипоплазией дистального от-дела локтевой кости, подвывихом/вывихом головки лучевой кости, а также клиновидная деформация позвонков, укорочение и расширение пястных костей и фаланг пальцев [9,10,11].…”

Section: сLinical and Radiological Characteristics Of Two Patients With Acromesomelic Dysplasia Maroteaux Type With New Mutation In The Nunclassified

Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the <i>NRP2</i> Gene

Маркова

Kenis

Миронович

et al. 2020

Traumatology and Orthopedics of Russia

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Relevance. Acromezomelic dysplasia Maroteaux type (AMDM) is a rare variant of autosomal recessive skeletal disorder. The disease is caused by mutations in the NPR2 gene, coding the protein product which is one of the main regulators of endochondral ossification. To date, 49 mutations in this gene have been identified, more than half of which are missense substitutions. The presence of polymorphism of phenotypic manifestations makes it necessary to describe the features of clinical and radiological characteristics of the disease in patients with newly identified mutations in the gene, which will help to optimize its diagnosis. Case presentation. The clinical and radiological characteristics of two siblings with newly identified mutations c.125_126insTGGCG (p.Trp42CysfsTer12) and (p.Arg767Ter) in the NPR2 gene are described. Intra-family polymorphism of clinical manifestations is shown. Discussion. Clinical manifestations and radiological data in two siblings with AMDM caused by new mutations in the NPR2 gene and analysis of the literature data allowed us to conclude that there is no correlation of the severity of clinical signs and the type of mutations in the gene. Patients are born with normal growth and weight, and clinical manifestations (disproportionate dwarfism) appeared during the first year of life. The main radiological signs are shortening of tubular bones, most pronounced in the upper limbs and wedge-shaped formation of the vertebral bodies. Genotype-phenotype correlations confirmed the hypothesis that the majority of mutations leading to the disease is localized within the ligand-binding and guanylate cyclase domains. Conclusion. The obvious genetic heterogeneity, the similarity of the clinical manifestations of individual nosological groups of skeletal dysplasias, as well as the presence of intrafamily and interfamily polymorphism of clinical manifestations allows us to consider sequencing of a clinical exome or whole exome as the optimal method for diagnosing this group of diseases.

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“…Subsequently, several studies showed that homozygous or compound heterozygous mutations of the NPR2 gene caused a severe and disproportionate short stature, whereas heterozygous mutations of this gene seemed to be associated with mild and variable growth impairment without a distinct skeletal phenotype (Wang et al, 2015). Dozens of homozygous NPR2 mutations causing AMDM, as well as heterozygous NPR2 mutations causing idiopathic short stature (ISS), have since been reported (Hwang et al, 2020; Irfanullah et al, 2018; Tran et al, 2019; Wang et al, 2015). However, only two families have been reported as having a heterozygous NPR2 gene c.2455C>T mutation (NM_003995.3( NPR2 ):c.2455C>T p.(Arg819Cys)) causing ISS.…”

Section: Introductionmentioning

confidence: 99%

De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam

Nguyen

et al. 2021

Molec Gen & Gen Med

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Background A heterozygous natriuretic peptide receptor 2 (NPR2) gene c.2455C>T mutation was identified as a cause of familial idiopathic short stature (ISS). Only two cases with this mutation were reported previously, and the probands with ISS had no organ system defects. Methods Next‐generation sequencing (NGS) was performed on an amniotic fluid DNA sample of a fetus with shortened long bones and a small ventricular septal defect detected by an obstetric ultrasound examination. The pathogenic variant of the fetus was confirmed by Sanger sequencing. Sanger sequencing, G‐banded, and C‐banded karyotyping of the fetus's parents were subsequently performed. Results A de novo NPR2 gene c.2455C>T, p.(Arg819Cys) mutation was identified in the fetus. No microdeletion or microduplication was identified in the fetus by copy number variation sequencing with a maximum resolution of 400 kb. The two previous miscarriages experienced by the fetus's parents were interpreted as a result of chromosomal aberrations, including a maternal fragile site at 16q22.1 and a rare paternal variant involving in a large G‐band‐positive and C‐band‐positive block of paracentric heterochromatin of chromosome 4p. Conclusion This report provides clinical signs of a de novo heterozygous NPR2 gene c.2455C>T mutation in the fetus and shows paternal chromosomal aberrations causing repeated pregnancy loss.

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Acromesomelic dysplasia Maroteaux‐type in patients from Vietnam

Cited by 5 publications

References 5 publications

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience

Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the <i>NRP2</i> Gene

De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam

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