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NA20218 DNA from LCL

Description:

LANGER MESOMELIC DYSPLASIA
SHORT STATURE HOMEOBOX; SHOX

Affected:

Yes

Sex:

Female

Age:

8 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; anthropometric measurements at age 8 months: height = 57.5 cm, weight = 5.88 kg, head circumference = 45.2 cm; birth length 17 3/4 inches; developmentally normal at 8 months of age; severe shortening of forearms with ulnar deviation; decreased extension of the third and fourth fingers of each hand; mild tibial bowing; unusual foreshortening of the forearms and lower legs; mild micrognathia; elevated 17-hydroxyprogesterone on newborn screen; diagnosis of non-classic 21-hydroxylase deficiency made in newborn period; no ambiguous genitalia; donor subject is homozygous for a deletion of the SHOX allele. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid.

Characterizations

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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.
 
Gene SHOX
Chromosomal Location Xpter-p22.32
Allelic Variant 2 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.

Phenotypic Data

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Remarks Clinically affected; anthropometric measurements at age 8 months: height = 57.5 cm, weight = 5.88 kg, head circumference = 45.2 cm; birth length 17 3/4 inches; developmentally normal at 8 months of age; severe shortening of forearms with ulnar deviation; decreased extension of the third and fourth fingers of each hand; mild tibial bowing; unusual foreshortening of the forearms and lower legs; mild micrognathia; elevated 17-hydroxyprogesterone on newborn screen; diagnosis of non-classic 21-hydroxylase deficiency made in newborn period; no ambiguous genitalia; donor subject is homozygous for a deletion of the SHOX allele. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid.

External Links

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dbSNP dbSNP ID: 19287
Gene Cards SHOX
Gene Ontology GO:0001501 skeletal development
GO:0003700 transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
GO:0006366 transcription from Pol II promoter
GO:0007275 development
NCBI Gene Gene ID:6473
NCBI GTR 249700 LANGER MESOMELIC DYSPLASIA; LMD
312865 SHORT STATURE HOMEOBOX; SHOX
OMIM 249700 LANGER MESOMELIC DYSPLASIA; LMD
312865 SHORT STATURE HOMEOBOX; SHOX
Omim Description DYSCHONDROSTEOSIS, HOMOZYGOUS
  LANGER TYPE MESOMELIC DWARFISM
  MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA AND MANDIBLE TYPE
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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