1. Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.

    Pediatric Radiology 45(8):1239 (2015) PMID 25835322

    We report a 4-year-old boy with sclerosteosis associated with severe digital dysostosis. The initial medical consultation was prompted by bilateral, asymmetrical syndactyly of the index and middle fingers. The left index finger had complicated phalangeal anomalies: hyperphalangy (supernumerary p...
  2. Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.

    American Journal of Medical Genetics Part A 167(7):1627 (2015) PMID 25858481

    Most cases of osteogenesis imperfecta (OI) are caused by heterozygous mutations in COL1A1 or COL1A2, the genes encoding the two type I procollagen alpha chains, proα1 (I) and proα2 (I). We report on a unique case of severe OI, a long term survivor of lethal type II OI, rather than progressively ...
  3. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

    Journal of Medical Genetics 52(7):476 (2015) PMID 26032025

    Mesomelic dysplasias are a group of skeletal disorders characterised by shortness of the middle limb segments (mesomelia). They are divided into 11 different categories. Among those without known molecular basis is mesomelic dysplasia Savarirayan type, characterised by severe shortness of the mi...
  4. Painless lumps in the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type 1.

    Acta paediatrica Japonica; Overseas edition 57(3):507 (2015) PMID 26113321

  5. Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

    Human Mutation 36(2):191 (2015) PMID 25402547

    Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis wi...
  6. Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta.

    Human Mutation 36(2):191 (2015) PMID 25402547

    Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis wi...
  7. Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

    Human Molecular Genetics 24(2):299 (2015) PMID 25187577

    Type II collagen is a major component of cartilage. Heterozygous mutations in the type II collagen gene (COL2A1) result in a group of skeletal dysplasias known as Type II collagenopathy (COL2pathy). The understanding of COL2pathy is limited by difficulties in obtaining live chondrocytes. In the ...
  8. Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

    Human Molecular Genetics 24(2):299 (2015) PMID 25187577

    Type II collagen is a major component of cartilage. Heterozygous mutations in the type II collagen gene (COL2A1) result in a group of skeletal dysplasias known as Type II collagenopathy (COL2pathy). The understanding of COL2pathy is limited by difficulties in obtaining live chondrocytes. In the ...
  9. Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

    Human Molecular Genetics 24(2):299 (2015) PMID 25187577

    Type II collagen is a major component of cartilage. Heterozygous mutations in the type II collagen gene (COL2A1) result in a group of skeletal dysplasias known as Type II collagenopathy (COL2pathy). The understanding of COL2pathy is limited by difficulties in obtaining live chondrocytes. In the ...
  10. Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis

    Cellular Signalling 26(11):2446 (2014)

    Acrodysostosis without hormone resistance is a rare skeletal disorder characterized by brachydactyly, nasal hypoplasia, mental retardation and occasionally developmental delay. Recently, loss-of-function mutations in the gene encoding cAMP-hydrolyzing phosphodiesterase-4D (PDE4D) have ...
  11. Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

    Cellular Signalling 26(11):2446 (2014) PMID 25064455

    Acrodysostosis without hormone resistance is a rare skeletal disorder characterized by brachydactyly, nasal hypoplasia, mental retardation and occasionally developmental delay. Recently, loss-of-function mutations in the gene encoding cAMP-hydrolyzing phosphodiesterase-4D (PDE4D) have been repor...
  12. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

    American Journal of Medical Genetics Part A 164A(10):2529 (2014) PMID 25044890

    Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup-shaped, large metaphyses known as metaphyseal scypho ("scypho" = cup) deformity. It is also associated with severe growth retardation ...
  13. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

    American Journal of Medical Genetics Part A 164A(10):2529 (2014) PMID 25044890

    Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup-shaped, large metaphyses known as metaphyseal scypho ("scypho" = cup) deformity. It is also associated with severe growth retardation ...
  14. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

    American Journal of Medical Genetics Part A 164A(9):2398 (2014) PMID 24934387

    We report on a girl with absent nails, short/absent distal phalanges of the second to fifth fingers and toes, short thumbs, absent halluces, and carpo-tarsal coalition who also had genitourinary malformations. Trio-based whole exome sequencing identified a novel de novo mutation (c.1102A>T, p.Il...
  15. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

    American Journal of Medical Genetics Part A 164A(9):2398 (2014) PMID 24934387

    We report on a girl with absent nails, short/absent distal phalanges of the second to fifth fingers and toes, short thumbs, absent halluces, and carpo-tarsal coalition who also had genitourinary malformations. Trio-based whole exome sequencing identified a novel de novo mutation (c.1102A>T, p.Il...
  16. Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

    Acta paediatrica Japonica; Overseas edition 56(4):e26 (2014) PMID 25252066

    We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a "Swedish key" appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra-ossification center at the base of the proximal phalanx of the ind...
  17. Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias.

    Pediatric Radiology 44(8):971 (2014) PMID 24737001

    Recently, computed tomography (CT) has been used to diagnose fetal skeletal dysplasia. However, no surveys have been conducted to determine the radiation exposure dose and the diagnostic reference level (DRL). To collect CT dose index volume (CTDIvol) and dose length product (DLP) data from dome...
  18. Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias.

    Pediatric Radiology 44(8):971 (2014) PMID 24737001

    Recently, computed tomography (CT) has been used to diagnose fetal skeletal dysplasia. However, no surveys have been conducted to determine the radiation exposure dose and the diagnostic reference level (DRL). To collect CT dose index volume (CTDIvol) and dose length product (DLP) data from dome...
  19. Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

    Acta paediatrica Japonica; Overseas edition 56(4):e26 (2014) PMID 25252066

    We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a "Swedish key" appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra-ossification center at the base of the proximal phalanx of the ind...
  20. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

    The American Journal of Human Genetics 95(1):96 (2014) PMID 24931394 PMCID PMC4085583

    Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with re...