Description:
ROBERTS SYNDROME; RBS
ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Gene |
ESCO2 |
| Chromosomal Location |
8p21.1 |
| Allelic Variant 1 |
Q202X; ROBERTS SYNDROME |
| Identified Mutation |
GLN202TER |
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| Gene |
ESCO2 |
| Chromosomal Location |
8p21.1 |
| Allelic Variant 2 |
609353.0007; ROBERTS SYNDROME |
| Identified Mutation |
752delA |
| Remarks |
Clinically affected; formerly AG04344; congenital cranial nerve palsies (VII and IX or X); short stature; microcephaly; broad, high forehead; beaked nose; high nasal bridge; hypoplastic mid-face (cartilage of tip and nasal alae) with anteverted nares; intact palate; short philtrum and down-turned mouth; small eyes with blepharochalasis; optic nerve pit of the right optic disc; hypoplastic scapulae, humerii, and ulnae with absent radii and metacarpals I and V; absent thumbs; two of the remaining four fingers arose from bifid IVth metacarpals; great toes were short with wide first interdigital space; absent iliac horns and hypoplastic patellae, distal tibiae and fibulae; small vertebrae; thoracic kyphoscoliosis; mild pulmonic valve stenosis; scotoma of right eye; mild mental retardation (IQ = 66); diabetes mellitus diagnosed at age 32 controlled by diet; malignant melanoma of left scapular area of upper back treated surgically only; patient died 3 years after excision of the primary tumor; autopsy revealed widely metastatic melanoma; an older sister has same features with some additional skeletal anomalies (complete fusion of short ulnae with hypoplastic humerii and absent left patella and tibiae), but with no cancer; premature separation of centromeres (PCS) of sister chromatids in leukocytes, EBV virus-transformed lymphoblasts, skin fibroblasts, and metastatic melanoma cells; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 604 in exon 3 of the ESCO2 gene [604C>T] resulting in a substitution of a termination signal for glutamine at codon 202 [Gln202Ter (Q202X)] and a second allele has a single-nucleotide deletion at nucleotide 752 in exon 3 of the ESCO2 gene [752delA] resulting in a frameshift with a truncated protein [K253fsX12]; same donor is GM20467 fibroblast. |
| Birgitt Schule, Angelica Oviedo, Kathreen Johnston, Shashidhar Pai, anf Uta Francke, Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation Am J Hum Genet77:1117-1128 2005 |
| PubMed ID: |
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| Krassikoff NE, Cowan JM, Parry DM, Francke U, Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic- cell hybrids. Am J Hum Genet39:618-30 1986 |
| PubMed ID: 3788975 |
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| Parry DM, Mulvihill JJ, Tsai SE, Kaiser-Kupfer MI, Cowan JM, SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. Am J Med Genet24(4):653-72 1986 |
| PubMed ID: 3740099 |
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