Description:
SMITH-MAGENIS SYNDROME; SMS
RETINOIC ACID-INDUCED GENE 1; RAI1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Class |
Disorders of the Nervous System |
| 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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Possibly 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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ISCN
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46,XX.ish 17p13.3(LISIX2),17p11.2(FLIX2)
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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 |
RAI |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
Q1562R; SMITH-MAGENIS SYNDROME |
| Identified Mutation |
GLN1562ARG |
| Remarks |
Clinically affected; born at 42 weeks gestation; birth weight = 4.1 kg; behavior problems noted at age 9 months with explosive tantrums; frequent irritability with sleep disturbance in infancy; microcephaly diagnosed as an infant (head circumference < 5th percentile) but head growth gradually improved to normal range; height and weight remained at 25th percentile throughout early childhood with gradual increases over time; sat at age 6 months; walked at age 12 months; speech was delayed and regressed at age 4 years with onset of seizures; seizures were complex and involved grand mal, Jacksonian, and petit mal episodes; language, psychosocial, motor, and cognitive skills below the 7th percentile; IQ = 57 on Wechsler scale; self-hugging; attention seeking; head banging; twirling of objects; onychotillomania; polyembolokoilamania of rectum, umbilicus, ears, and mouth; no abnormal sleep patterns at age 11 years (but sedated as a component of seizure therapy); at age 11 years, height and weight about 75th percentile and head circumference at 50th percentile; flat occiput and round face (like mother's); no midface hypoplasia; full lips with tenting of upper lip; multiple small, nonpigmented papillae on tongue; two 2x3 cm cafe-au-lait spots on trunk; eczema behind ears; brachycephaly; no synophrys; brachydactyly; hoarse, deep voice; no recurrent ear infections; hypotonia; no myopia, strabismus, or iris abnormalities; no structural cardiovascular or renal anomalies; EEG showed 2.5-5 Hz delta activity with medium to high amplitude spikes, sharps and polyspikes seen over the right central parietal, right occipital and bifrontal regions; MRI showed slight asymmetry in the gyral sulcation pattern along the left posterior frontal lobe in the precentral gyrus; normal karyotype; no evidence of 17p11.2 deletion; donor subject has a de novo A>G transition at nucleotide 4685 in exon 3 of the RAI1 gene [4685A>G] resulting in a substitution of arginine for glutamine at codon 1562 [Gln1562Arg (Q1562R)]. |
| Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH, RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet42(11):820-8 2005 |
| PubMed ID: 15788730 |
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