Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65%, brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter.
mmm appear to contain cloning artifacts. 13. The 5' end of the human cDNA was obtained by two rounds of PCR amplification of the CLN2 candidate from a human cortex cDNA library (Stratagene) by means of two different gene-specific primers and a single vector-specific primer. In the first round of PCR the T3 promoter primer was used with either gene-specific primer NR1 (5'-GT-GATCACAGAATGGCACTT) or NR2 (5'-AACAT-GGGTTTCCGTAGGTC). In the second round of PCR, with the products from the first amplification, the T3 promoter primer and NR4 (5'-CTTCCT-CAGGGTCCGCACGG) were used. 14. GenBank accession number AF017456. 15. Three lines of evidence give corroborative results for an unequivocal localization, (i) There is a nearly perfect match between nt 34 to 104 of the CLN2 cDNA candidate and GenBank accession number B04497, which represents a PCR-amplified fragment of a-flow-sorted chromosome 11-specific cosmid clone. (The 317-nt B04497 also contains sequence of flanking introns.) (ii) There is a perfect 505-nt match between the 3' end of the CLN2 cDNA (nt 2979 to 3483) and the 5' end (nt 1 to 505) of GenBank accession number U25816. U25816 consists of 2605 nt that encompass the human TATAbinding protein associated factor II 30 (TAFn30) gene. The TAFM30 transcription start site is at U25816 nt 1060, and most of the promoter elements are downstream of U25816 nt 860 and thus do not overlap with the 3' end of the large CLN2 candidate transcript. Thus, the CLN2 candidate gene and the TAFn30 gene are physically adjacent. The TAF,|30 gene was mapped to chromosome 11 p15.2-p15.5 by means of in situ hybridization [E.
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