1. Cover Image, Volume 170A, Number 9, September 2016.

    American Journal of Medical Genetics Part A 170(9):i (2016) PMID 27518918

    The cover image, by Shahida Moosa et al., is based on the Research Letter A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival, DOI: 10.1002/ajmg.a.37823. © 2016 Wiley Periodicals, Inc.
  2. A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.

    American Journal of Medical Genetics Part A 170(9):2483 (2016) PMID 27362607

  3. Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

    American Journal of Medical Genetics Part A 170(9):2462 (2016) PMID 27380734

    Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi-system disorder with a variety of extraskeletal changes. Wher...
  4. Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

    American Journal of Medical Genetics Part A 170(9):2310 (2016) PMID 27375131

    Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz-Jampel syndrome,...
  5. A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

    American Journal of Medical Genetics Part A 170(9):2436 (2016) PMID 27354339

  6. Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

    Journal of Medical Genetics 53(8):568 (2016) PMID 27055475

    Osteosclerotic metaphyseal dysplasia (OSMD) is a unique form of osteopetrosis characterised by severe osteosclerosis localised to the bone ends. The mode of inheritance is autosomal recessive. Its genetic basis is not known. To identify the disease gene for OSMD. By whole exome sequencing in a b...
  7. Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.

    American Journal of Medical Genetics Part A 170(8):2212 (2016) PMID 27264419

  8. NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

    Nature Genetics 48(7):777 (2016) PMID 27213289

    We identified biallelic mutations in NANS, the gene encoding the synthase for N-acetylneuraminic acid (NeuNAc; sialic acid), in nine individuals with infantile-onset severe developmental delay and skeletal dysplasia. Patient body fluids showed an elevation in N-acetyl-D-mannosamine levels, and p...
  9. A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.

    Clinical Pediatric Endocrinology 25(3):107 (2016) PMID 27507912 PMCID PMC4965511

  10. A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3.

    Clinical Pediatric Endocrinology 25(3):103 (2016) PMID 27507911 PMCID PMC4965510

  11. Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

    New England Journal of Medicine 374(26):2553 (2016) PMID 27355534

    Cortical-bone fragility is a common feature in osteoporosis that is linked to nonvertebral fractures. Regulation of cortical-bone homeostasis has proved elusive. The study of genetic disorders of the skeleton can yield insights that fuel experimental therapeutic approaches to the treatment of ra...
  12. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

    The American Journal of Human Genetics 98(6):1243 (2016) PMID 27236923 PMCID PMC4908150

    Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second ...
  13. Criteria for radiologic diagnosis of hypochondroplasia in neonates.

    Pediatric Radiology 46(4):513 (2016) PMID 26867606

    A radiologic diagnosis of hypochondroplasia is hampered by the absence of age-dependent radiologic criteria, particularly in the neonatal period. To establish radiologic criteria and scoring system for identifying neonates with fibroblast growth factor receptor 3 (FGFR3)-associated hypochondropl...
  14. Stippled calcification in an infant with a recurrent SRCAP gene mutation.

    American Journal of Medical Genetics Part A 170A(4):1088 (2016) PMID 26788936

  15. Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

    American Journal of Medical Genetics Part A 170(3):795 (2016) PMID 26586363

  16. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    American Journal of Medical Genetics Part A 170A(2):460 (2016) PMID 26463668

    Spondylo-meta-epiphyseal dysplasia (SMED), short limb-abnormal calcification type (SMED, SL-AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature calcification leading to severe disproportionate short stature. Twenty-two patients have been repo...
  17. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

    European Journal of Human Genetics 24(2):198 (2016) PMID 25966638 PMCID PMC4717212

    A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs ...
  18. Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.

    Orphanet Journal of Rare Diseases 11(1):1 (2016) PMID 26728142 PMCID PMC4700746

    Ischiospinal dysostosis (ISD) is a polytopic dysostosis characterized by ischial hypoplasia, multiple segmental anomalies of the cervicothoracic spine, hypoplasia of the lumbrosacral spine and occasionally associated with nephroblastomatosis. ISD is similar to, but milder than the lethal/semilet...
  19. A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity.

    Human Genome Variation 3:16007 (2016) PMID 27274858 PMCID PMC4871930

    The purpose of this study was to describe a family with spondyloepiphyseal dysplasia caused by a novel type II collagen gene (COL2A1) mutation and the family's phenotypic diversity. Clinical and radiographic examinations of skeletal dysplasia were conducted on seven affected family members acros...
  20. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

    PLoS ONE 11(3):e0150555 (2016) PMID 26974433 PMCID PMC4790905

    Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations...