Byers Lab: References and Publications

Osteogenesis Imperfecta - Diagnosis

Steiner RD, Pepin MG, Byers PH.  2005 Jan 28. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.  Osteogenesis Imperfecta.

Byers PH The Metabolic & Molecular Basis of Inherited Disease 8th Edition Volume IV 2000 Disorders of Collagen Biosynthesis and Structure p 5241-85.

Sillence DO et al. Genetic heterogeneity in osteogenesis imperfecta J Med Genet 1979 Apr;16(2):101-16.

Wenstrup RJ et al. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet. 1990 May;46(5):975-82.

Glorieux FH et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000 Sep;15(9):1650.

Glorieux FH et al. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002 Jan;17(1):30-8.

Morello R et al. Cell 2006 Oct 20;127(2):291-304. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

Barnes AM et al. NEJM 2006 Dec 28;355(26):2757-64. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

Cabral WA et al. Nat Genet 2007 Mar;39(3):359-65 Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Mar;39(3):359-65.

Baldridge D et al. Hum Mutat. 2008 Dec;29(12):1435-42 CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Dec;29(12):1435-42.

Van Dijk FS et al  Am J Hum Genet 2009 Oct;85(4):521-7 PPIB mutations cause severe osteogenesis imperfecta.

Barnes AM et al  NEJM 2010 Feb 11;362(6):521-8. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.

Pyott SM, Schwarze U et al.  Hum Mol Genet. 2011 Apr 15;20(8): 1595-609. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

Alanay Y et al  Am J Hum Genet 2010 Apr 9;86(4):551-9. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Christiansen HE et al  Am J Hum Genet2010 Mar 12;86(3):389-98. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 

OI Recurrence, Prenatal Diagnosis and Pregnancy

Byers PH et al. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet. 1988 Feb;42(2):237-48.

Cohn DH et al Am J Hum Genet.  1990 Mar;46(3):591-601.  Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Pepin M et al. Prenat Diagn. 1997 Jun;17(6):559-70.  Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies.

Cubert R et al. Obstet Gynecol. 2001 Jan;97(1):66-9.Osteogenesis imperfecta: mode of delivery and neonatal outcome.

Pyott SM, et al.  Genet Med. 2011 Feb;13(2):125-30.  Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. 

Bodian DL, et al. Hum Mol Genet. 2009 Feb 1;18(3):463-71. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Ehlers-Danlos Syndrome (EDS) - General

Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998 Apr 28;77(1):31-7.

Byers PH The Metabolic & Molecular Basis of Inherited Disease 8th Edition Volume IV 2000 Disorders of Collagen Biosynthesis and Structure p 5241-85.

Byers PH and Schwarze U. Principles and Practices of Medical Genetics 4th Edition Ehlers-Danlos syndrome. P. 4021-68.

EDS type I/II - Classical type

De Paepe A et al. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 1997 Mar;60(3):547-54.

Schwarze U et al. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet. 2000 Jun;66(6):1757-65.

Wenstrup RJ et al. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet 2000 Jun;66(6):1766-76.

EDS type I/II - Classical Form - Tenascin X deficiency

Burch GH et al.  Nat Genet. 1997 Sep;17(1):104-8. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

Schalkwijk J et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001 Oct 18;345(16):1167-75.

EDS type IV- Vascular type

Pepin MG, Byers PH. 1999 Sep 2 [updated 2006 Jun 7] In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Ehlers-Danlos Syndrome, Vascular Type.

Leistritz, DL et al.  Abstract  ASHG Meeting 2010 Washington DC.  COL3A1 haploinsufficiency results in EDS type IV with delayed onset of complications and longer life span when compared to missense and splice-site mutations.

Pepin M et al. N Engl J Med. 2000 Mar 9;342(10):673-80. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

EDS type VI - Lysyl Hydroxylase Deficiency

Wenstrup RJ et al. Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. J Pediatr. 1989 Sep;115(3):405-9.

Yeowell HN et al. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. Hum Mutat. 2000 Jul;16(1):90.

Pasquali M et al. Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI. Proc Assoc Am Physicians. 1997 Jan;109(1):33-41.

EDS type VIIA and B Arthrochalasia

Giunta C et al. Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am. 1999 Feb;81(2):225-38. Review. Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

Byers PH et al. Am J Med Genet. 1997 Oct 3;72(1):94-105. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

EDS type VIIC - Dermatospraxis

Smith LT et al. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. Am J Hum Genet. 1992 Aug;51(2):235-44.

Colige A et al. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet 1999 Aug;65(2):308-17.

Nusgens BVet al.Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. Nat Genet. 1992 Jun;1(3):214-7.

Loeys-Dietz Syndrome

Mizuguchi T et al. Nat Genet. 2004 Aug;36(8):855-60. Heterozygous TGFBR2 mutations in Marfan syndrome.

Loeys BL et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations inTGFBR1 or TGFBR2Nat Genet. 2005 Mar;37(3):275-81.

Loeys BL et al. NEJM. Volume 355:788-798 August 24, 2006 Number 8 Aneurysm Syndromes Caused by Mutations in the TGFbeta Receptor.

Familial Aortic Aneurysm

Coucke PJ et al. Nat Genet. 2006 Apr;38(4): 452-7 Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Callewaert, BL et al. Hum Mutat 2008 Jan;29(1): 150-8. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

GuoDC et al.  Nat Genet. 2007 Dec;39(12):1488-93. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Zhu L et al.  Nat Genet. 2006 Mar;38(3):343-9. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.

van de Laar IM et al. Nat Genet. 2011 Feb;43(2):121-6. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.