Pycnodysostosis: mutation spectrum in five unrelated Indian children

Mandal, Kausik; Ray, Sayantan; Saxena, Deepti; Srivastava, Priyanka; Moirangthem, Amita; Ranganath, Prajnya; Gupta, Neerja; Mukhopadhyay, Satinath; Kabra, Madhulika; Phadke, Shubha R.

doi:10.1097/mcd.0000000000000128

Cited by 18 publications

(9 citation statements)

References 24 publications

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“…[ 45 46 ] The reports on IDS mutations in 17 affected families with Hunter syndrome, ARSB mutations in 15 families of Maroteaux–Lamy syndrome, MMP2 mutations in 15 affected families with multicentric osteolysis nodulosis and arthropathy, TCIRG1 and CLCN7 mutations in 8 patients with autosomal recessive osteopetrosis, CHST3 mutations in 7 patients of recessive Larsen syndrome, CTSK mutations in 5 patients with pycnodysostosis, and EIF2AK3 nonsense mutation in five Wolcott-Rallison type of diabetes mellitus were some of the notable publications describing the respective mutation profiles in Indian patients. [ 47 48 49 50 51 52 53 54 ]…”

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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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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“…Previous study from India also reported various novel variants suggesting the possibility of founder variants in different regions of India. 13-15 Seventy percent of genetic variants reported are missense. Other reported variants from India are c.136 C>T, c.526G>T, c.577C>T, c.526G>T, c.480_481insT, p.L160fsX173, c.120+1G>T in intron 2, c.399+1G>A in intron 4, and c.148T>G (p.W50G) in exon 2; c.136C>T being the most common variant.…”

Section: Discussionmentioning

confidence: 99%

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

Kochar

Sethi

Ahamad

2019

Clin Med Insights Case Rep

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Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge.

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“…Pycnodysostosis, also known as Toulouse-Lautrec syndrome, is a rare sclerosing skeletal dysplasia that is hereditary in order and autosomal recessive in character (Elyajouri et al, 2018;Mandal et al, 2016;Turan et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Buccomaxillofacial clinical approach to the patient with pycnodysostosis: case report and literature review

Silva¹,

Ferreira²,

Meza³

et al. 2023

Collection of International Topics in Health Science- V1

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Pycnodysostosis is a rare sclerosing skeletal dysplasia, hereditary and of autosomal recessive character, which is characterized by the presence of dense bones and thick cortical area with high fragility in affected individuals. To report a clinical case of pycnodysostosis, associating its clinical and radiographic features and discussing its causes, physiological repercussions and considerations related to orthodontic management and oral and maxillofacial surgical approaches. An 8-year-old female patient, phaeoderma, with pycnodysostosis, short stature, broad hands, dystrophic nails, and shortened phalanges, hypoplastic middle facial third and mandibular micrognathia. Intraoral examination revealed the presence of mixed dentition, crowding in the mandible, prolonged retention of deciduous teeth, multiple dental gyrations, extensive dental caries, absence of dental unit 11, ogival palate, anterior and posterior crossbite on the left side. Knowledge of the clinical manifestations in the oral and maxillofacial region related to pycnodysostosis is essential to identify and prepare an appropriate treatment plan for the development of these changes, which with time become more evident and difficult to manage.

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Pycnodysostosis: mutation spectrum in five unrelated Indian children

Cited by 18 publications

References 24 publications

A review of skeletal dysplasia research in India

A review of skeletal dysplasia research in India

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

Buccomaxillofacial clinical approach to the patient with pycnodysostosis: case report and literature review

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