Additional Three Patients With Smith-McCort Dysplasia Due to Novel RAB33B Mutations

Salian, Smrithi and Gandham, SriLakshmi Bhavani and Shukla, Anju and Girisha, KM (2017) Additional Three Patients With Smith-McCort Dysplasia Due to Novel RAB33B Mutations. American Journal of Medical Genetics- Part A, 173 (3). pp. 1-8. ISSN 1552-4825

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Abstract

Smith-McCort dysplasia (SMC OMIM 615222) and Dyggve- Melchior-Clausen dysplasia (DMC OMIM 223800) are allelic skeletal dysplasias caused by homozygous or compound heterozygous mutations inDYM(OMIM607461). Both disorders share the same skeletal phenotypes characterized by spondyloepi-metaphyseal dysplasia with distinctive lacy ilia. The difference rests on the presence or absence of intellectual disability,that is, intellectual disability in DMC and normal cognition in SMC. However, genetic heterogeneity was suspected in SMC.Recently, RAB33B (OMIM 605950) has been identified as the second gene for SMC. Nevertheless, only two affected families have been reported so far. Here we present three SMC patients with four novel pathogenic variants in RAB33B, including homozygosity for c.211C>T (p.R71), homozygosity for c.365T>C (p.F122S), and compound heterozygosity for c.48delCGGGGCAG (p.G17Vfs 58) and c.490C>T (p.Q164).We also summarize the clinical, adiological, and mutation profile of RAB33B after literature mining. This report ascertains the pathogenic relationship between RAB33B and SMC.

Item Type: Article
Uncontrolled Keywords: Smith-McCort dysplasia; RAB33B; Dyggve-Melchior- Clausen dysplasia; DYM; Dymeclin
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 23 Feb 2017 15:44
Last Modified: 23 Feb 2017 15:44
URI: http://eprints.manipal.edu/id/eprint/148344

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