title: Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
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 in DYM (OMIM 607461). Both disorders share the same skeletal phenotypes characterized by spondylo-epi-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, radiological, and mutation profile of RAB33B after literature mining. This report ascertains the pathogenic relationship between RAB33B and SMC. © 2017 Wiley Periodicals, Inc.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Smrithi
authors.initials: S
authors.lastname: Salian
authors.affiliation: Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
authors.affiliation: Department of Medical Genetics, Apollo Children's Hospital, Chennai, Tamilnadu, India.
authors.forename: Kalpana
authors.initials: K
authors.lastname: Gowrishankar
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Gandham SriLakshmi
authors.initials: GS
authors.lastname: Bhavani
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Mediscan Systems, Chennai, India.
authors.forename: Sujatha
authors.initials: S
authors.lastname: Jagadeesh
authors.affiliation: Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D002648:Child; D003241:Consanguinity; D003952:Diagnostic Imaging; D019066:Facies; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA; D020691:rab GTP-Binding Proteins / Q000235:genetics*
chemical_list: C477370:DYM protein, human; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C486397:RAB33B protein, human; D020691:rab GTP-Binding Proteins
keywords: DYM; Dyggve-Melchior-Clausen dysplasia; Dymeclin; RAB33B; Smith-McCort dysplasia