Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.

PubWeight™: 0.77‹?›

🔗 View Article (PMID 10466420)

Published in Clin Genet on July 01, 1999


A Mégarbané1, F A Haddad, S Haddad-Zebouni, M Achram, G Eich, M Le Merrer, A Superti-Furga

Author Affiliations

1: Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb

Articles by these authors

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med (2000) 7.61

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04

Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37

PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. Am J Pathol (2001) 2.52

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet (1998) 2.30

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet (1998) 2.14

Congenital lumbosacral lipomas. Childs Nerv Syst (1997) 2.11

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08

Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. J Biol Chem (1991) 2.03

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet (1994) 1.97

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89

Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet (1995) 1.88

FGFR2 mutations in Pfeiffer syndrome. Nat Genet (1995) 1.82

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet (2000) 1.62

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat (2001) 1.60

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet (1997) 1.59

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest (1998) 1.52

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet (1998) 1.51

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet (1996) 1.50

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet (1997) 1.49

Sulphate transporter gene mutations in apparently isolated club foot. J Med Genet (2001) 1.47

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients. Eur J Endocrinol (2014) 1.46

Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet (1999) 1.42

A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet (1998) 1.42

Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet (2001) 1.40

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40

Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue. Eur J Pediatr (2008) 1.39

A new lethal syndrome of exomphalos, short limbs, and macrogonadism. J Med Genet (1999) 1.39

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet (2009) 1.38

Genetic study of scaphocephaly. Am J Med Genet (1996) 1.34

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet (2001) 1.34

Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem (2001) 1.32

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet (1999) 1.29

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet (1995) 1.27

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem (1991) 1.27

Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet (2003) 1.26

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification. Mech Dev (1998) 1.25

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet (1996) 1.22

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet (2001) 1.21

COL9A3: A third locus for multiple epiphyseal dysplasia. Am J Hum Genet (1999) 1.17

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. J Med Genet (2003) 1.16

Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15

Clinical variability in patients with Apert's syndrome. J Neurosurg (1999) 1.15

Left-sided omental torsion: CT appearance. Eur Radiol (2001) 1.15

Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet A (2003) 1.15

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet (2005) 1.15

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. Am J Med Genet (1996) 1.14

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. Am J Hum Genet (1991) 1.14

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet (2001) 1.12

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet (2001) 1.11

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. Matrix Biol (1998) 1.10

Posttraumatic dural sinus thrombosis in children. Eur J Pediatr Surg (2000) 1.10

The painful hip: evaluation of criteria for clinical decision-making. Eur J Pediatr (1999) 1.09

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A (2004) 1.08

Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am J Med Genet (1998) 1.08

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet (2003) 1.07

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet (2004) 1.07

Neural tube defects in France: segregation analysis. Am J Med Genet (1982) 1.06

Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis (2011) 1.05

IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab (1999) 1.05

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet (1998) 1.05

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet (2010) 1.05

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.05

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet (2000) 1.04

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am J Hum Genet (1995) 1.04

Osteoporosis-pseudoglioma or osteogenesis imperfecta? Clin Genet (1986) 1.04

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr (1997) 1.03

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet (2005) 1.03

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet (2002) 1.03

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet (1996) 1.03

Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet (2001) 1.03

Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy. Eur J Pediatr (2000) 1.02

Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. J Bone Miner Res (1999) 1.02

A HaeIII RFLP in COL1A1. Nucleic Acids Res (1990) 1.02

Rare human skin infection with Corynebacterium ulcerans: transmission by a domestic cat. Infection (2012) 1.01

Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am (1999) 1.01

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". Am J Med Genet (1998) 1.01

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. Eur J Hum Genet (1999) 1.01

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. Am J Med Genet A (2008) 1.00

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Hum Genet (1998) 1.00

SHOX point mutations in dyschondrosteosis. J Med Genet (2001) 1.00

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. J Neurosurg (2000) 1.00

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts. Hum Genet (1993) 1.00

Kissing osteochondromata leading to synostoses. Eur Radiol (1997) 0.99

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. Clin Genet (2010) 0.99

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. J Med Genet (2003) 0.98

The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. Genomics (1993) 0.97

Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. J Biol Chem (1996) 0.97

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. J Med Genet (2002) 0.97

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet (2009) 0.97