Description:
SMITH-MAGENIS SYNDROME; SMS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| 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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Hispanic/Latino
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Country of Origin
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USA
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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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ISCN
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46,XY.arr[hg19](1-22)x2,(XY)x1
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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 |
RAI1 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
K1753X; SMITH-MAGENIS SYNDROME |
| Identified Mutation |
LYS1753TER |
| Remarks |
Clinically affected; symptom onset at infancy; diagnosed by geneticist; decreased fetal movement during pregnancy; craniofacial: dysmorphic facial features, ear malformation, hypertelorism, mid-face retrusion (hypoplasia), obstructive sleep apnea, hoarse voice; cutaneous: hyperpigmentation, hypopigmentation; musculoskeletal: brachydactyly, pes planus, short neck; neurological clinical findings: defective vision, strabismus, weakness, hypotonia, absent reflexes; normal neurological structure; growth development: fine motor delay, gross motor delay, short stature, speech delay, overweight/obese; cognitive/behavioral: intellectual disability - 47 IQ/DQ, ADHD, oppositional defiant disorder, sleep disturbance, self-injurious behaviors, disruptive behavior disorder, impulsive unprovoked aggression, hebephrenic, sometimes elated; karyotype: 46,XY; mutation in RAI1 gene: c.527A>T (K1753X). |
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