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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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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| Gene |
SHOX |
| Chromosomal Location |
Xpter-p22.32 |
| Allelic Variant 2 |
; LANGER MESOMELIC DYSPLASIA |
| Identified Mutation |
del DXYS233 |
| Remarks |
Clinically affected; anthropometric measurements at age 50 years: height = 146.7 cm, weight = 117 lbs, head circumference = 57.8 cm; curvature of forearms noted at birth; increased carrying angle; Madelung's wrist deformity; hydrocele repair; bilateral osteotomies on femurs and derotation of hips for treatment of in toeing during childhood; attention-deficit disorder diagnosed in adulthood; acid reflux; donor subject is a compound heterozygote: one allele has a complete deletion of one SHOX gene and a second allele has a deletion of DXYS233. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid. |
| Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine: 2018 |
| PubMed ID: 30293986 |
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