Mutation analysis in Indian children with achondroplasia — utility of molecular diagnosis

Patil, Siddramappa J.; Banerjee, Monisha; Phadke, Shubha R.; Mittal, Balraj

doi:10.1007/s12098-009-0044-y

Cited by 9 publications

(5 citation statements)

References 10 publications

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“…The estimated reported prevalence is approximately 1 in 15,000 people in the Indian population. 4 Although accurate prevalence estimation in a rare disease is challenging, reported estimates of achondroplasia birth prevalence vary widely, ranging from 1 in 10,000 to 40,000 newborns worldwide based on a few selected references. 5 This is a nonlethal skeletal dysplasia with a normal or near normal life expectancy beyond infancy.…”

Section: Introductionmentioning

confidence: 99%

Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India

et al. 2021

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Achondroplasia is the most common autosomal dominant form of skeletal dysplasia and is caused by heterozygous mutations of the fibroblast growth factor receptor 3 (FGFR3) gene at region 4p16.3. This study highlights the data of achondroplasia cases, clinical spectrum, and their outcome from small cities and the region around Rajasthan. The data for analysis were collected retrospectively from genetic records of rare disease clinic in Rajasthan. Clinical profile, radiographic features, molecular test results, and outcome were collected. There were 15 cases, including eight males and seven females, in this cohort. All had facial hypoplasia, depressed nasal bridge, prominent forehead, and characteristic radiographic features. A total of 14 cases were sporadic and one case was inherited from the mother. Mutation analysis showed 13 out of 15 cases with the p.Gly380Arg mutation in the FGFR3 gene. Hydrocephalus was developed in three cases, required shunting in two cases.

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Section: Introductionmentioning

confidence: 99%

Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India

et al. 2021

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“…This group had suggested that all the patients with ACH were to be initially screened for the presence of two common mutations in FGFR3 gene, c.1138G>A and c.1138G>C. This was in turn proved in 81% of the sporadic ACH cases from Lucknow, India. [ 39 ] The report on molecular analysis of 60 Indian patients affected with mucopolysaccharidosis type I (MPS I; n = 30) and mucopolysaccharidosis type II (MPS II; n = 30) disorders was considerable for the presence of recurrent pathogenic variants in both the disorders. [ 40 ] Mutations in affected families of Morquio A syndrome (MPS IV A, n = 68 families, GALNS ) and GM1 gangliosidosis ( n = 50 families, GLB1 ) disorders were reported by Bidchol et al .…”

Section: Resultsmentioning

confidence: 99%

A review of skeletal dysplasia research in India

Uttarilli

Shah

Shukla

et al. 2018

Journal of Postgraduate Medicine

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We aimed to review the contributions by Indian researchers to the subspecialty of skeletal dysplasias (SDs). Literature search using specific keywords in PubMed was performed to retrieve all the published literature on SDs as on July 6, 2017. All published literature on SDs wherein at least one author was from an Indian institute was included. Publications were grouped into different categories based on the major emphasis of the research paper. Five hundred and forty publications in English language were retrieved and categorized into five different groups. The publications were categorized as reports based on: (i) phenotypes (n = 437), (ii) mutations (n = 51), (iii) novel genes (n = 9), (iv) therapeutic interventions (n = 31), and (v) reviews (n = 12). Most of the publications were single-patient case reports describing the clinical and radiological features of the patients affected with SDs (n = 352). We enlisted all the significant Indian contributions. We have also highlighted the reports in which Indians have contributed to discovery of new genes and phenotypes. This review highlights the substantial Indian contributions to SD research, which is poised to reach even greater heights given the size and structure of our population, technological advances, and expanding national and international collaborations.

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“…Komplikasyonlara yönelik beyin cerrahisi ve ortopedi ameliyatları gerekebilir. 35,36 Akondroplazide rol oynayan moleküler süreçlerin daha iyi anlaşılmasıyla, FGFR3 ligandlarını, FGFR3 sinyal yolağını bloke etmeye çalışan tirozin kinaz inhibitörleri ve C-tipi natriüretik peptit analogları (vosoritid) gibi çeşitli ilaç çalışmaları devam etmektedir.…”

Section: Akondroplaziunclassified

Term yenidoğanlarda metabolik kemik hastalıkları: Olgu sunumları eşliğinde literatürün gözden geçirilmesi

Benli

Orman

Aydın

2022

Adıyaman Üniversitesi Sağlık Bilimleri Dergisi

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Yenidoğan bebeklerin bakımının iyileşmesiyle hasta yenidoğanların yaşam oranları son yıllarda önemli ölçüde artmıştır. Hastalıkların patofizyolojisinin ve genetik temelinin daha iyi anlaşılmasının yanı sıra yeni tanı ve tedavi modalitelerinin geliştirilmesi ile kemik ve mineral bozuklukları alanında hızlı ilerlemeler olmaya devam etmektedir. Tedaviye başlamanın zaman açısından kritik ve hayat kurtarıcı olduğu bazı durumlarda, hızlı teşhis hayati önem taşır. Bu yazıda, yenidoğanın metabolik kemik hastalıklarına yönelik yaklaşımların olgular eşliğinde sunulması amaçlandı. Ancak, prematüre bebeklerde görülen metabolik kemik hastalığı (prematüre osteopenisi) tamamen ayrı bir konu olduğu için bu derlemede bahsedilmemiştir.

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Mutation analysis in Indian children with achondroplasia — utility of molecular diagnosis

Abstract: Further study of these two cases is needed in order to define other genotypes resulting in achondroplasia. Postnatal diagnosis of achondroplasia depends on clinical and radiological features. Mutation detection is mainly useful for prenatal diagnosis.

Cited by 9 publications

References 10 publications

Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India

Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India

A review of skeletal dysplasia research in India

Term yenidoğanlarda metabolik kemik hastalıkları: Olgu sunumları eşliğinde literatürün gözden geçirilmesi

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