Description:
MYHRE SYNDROME; MYHRS
MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| 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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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Old Order Amish
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
SMAD4 |
| Chromosomal Location |
18q21.2 |
| Allelic Variant 1 |
; MYHRE SYNDROME |
| Identified Mutation |
c.1182_1197delAGGTGATGTTTGGGTC |
| Remarks |
Clinically affected; onset of symptoms at 6 weeks of age; diagnosed at 2 years of age by geneticist; dysmorphic features include: tall narrow forehead, almond-shaped eyes, anteverted nares, low-set ears, cupid-bow mouth, and high-arched palate; hypotonia; dysphagia; conductive hearing loss; gross motor and fine motor delay; L1 and L2 vertebral abnormality; Affymetrix CytoScan -normal; both whole exome sequencing and Sanger sequencing revealed donor subject to be heterozygous for the following mutation in SMAD4: c.1182_1197delAGGTGATGTTTGGGTC; treatment and management: physical, occupational, and speech language therapies; unaffected mother is GM26076. |
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