Description:
LANGER MESOMELIC DYSPLASIA
SHORT STATURE HOMEOBOX; SHOX
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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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Molecular characterization before cell line submission to CCR
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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 |
SHOX |
| Chromosomal Location |
Xpter-p22.32 |
| Allelic Variant 1 |
312865.0003; LANGER MESOMELIC DYSPLASIA |
| Identified Mutation |
DEL; In a fetus with Langer mesomelic dysplasia (249700), Belin et al. (1998) confirmed deletion of both SHOX alleles by fluorescence in situ hybridization. The mother, who had dyschondrosteosis (127300), was found to be heterozygous at this locus. Belin et al. (1998) showed that Langer mesomelic dysplasia results from homozygous mutations at the SHOX locus. Shears et al. (1998) likewise demonstrated a role for homozygous deletion involving the SHOX gene in the etiology of Langer dysplasia.
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| Remarks |
Clinically affected; anthropometric measurements at age 35.2 years: height = 122.1 cm, height SD score = -6.8, upper to lower segment ratio = 2.1, upper to lower segment z-score = 38.7, arm span = 96.3 cm, arm span z-score = -8.7, right tibial length z-score = -7.8, right radial length z-score = -7.4, fourth metacarpal z-score = -1.7; menarche at age 11; high arched palate; normal fingernails; no scoliosis; mild increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; parents had classic Leri-Weill dyschondrosteosis; sibling, GM20213, affected with Langer mesomelic dysplasia; subject has daughter with Leri-Weill dyschondrosteosis and hypochondroplasia and a son with Leri-Weill dyschondrosteosis; donor subject is heterozygous for a complete deletion of one SHOX allele and coding region mutations in the other SHOX allele were not detected. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid. |
| Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL, Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet110(2):158-63 2002 |
| PubMed ID: 12116254 |
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