			Home About us Contact

Sotos Syndrome (Soto + syndrome)

Distribution by Scientific Domains

Life Sciences	80%

Selected Abstracts

A probable case of gigantism in a fifth Dynasty skeleton from the Western Cemetery at Giza, Egypt

INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 4 2005
D. M. MulhernArticle first published online: 31 DEC 200
Abstract Pituitary gigantism is a rare endocrine disorder caused by excess secretion of growth hormone during childhood. Individuals with this condition exhibit unusually tall stature due to prolonged growth as well as associated degenerative changes. Continued secretion of excess growth hormone during adulthood results in acromegaly, a related condition that results in bony overgrowth of the skull, hands and feet. The remains of a large adult male, probably in his late 20s or early 30s, from a Fifth Dynasty tomb (2494,2345 BC) were excavated in 2001 from Cemetery 2500 in the Western Cemetery at Giza, Egypt, as part of the Howard University Giza Cemetery Project. This individual exhibits characteristics of pituitary gigantism, including tall but normally-proportioned stature, delayed epiphyseal union, a large sella turcica, advanced arthritis and a transepiphyseal fracture of the left femoral head. Additional pathological features, including osteopenia and thinness of the parietal bones, suggest that this individual may also have been hypogonadal. Craniometric comparisons with other ancient Egyptian groups as well as modern normal and acromegalic patients show some tendency toward acromegalic skull morphology. Differential diagnosis includes eunuchoid gigantism, Sotos syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, homocystinuria, Weaver syndrome and Klinefelter syndrome. In conclusion, the pathological features associated with this skeleton are more consistent with pituitary gigantism than any of the other syndromes that result in skeletal overgrowth. Copyright © 2004 John Wiley & Sons, Ltd. [source]

Perinatal imaging findings of inherited Sotos syndrome

PRENATAL DIAGNOSIS, Issue 10 2002
Chih-Ping Chen
Abstract Objectives Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. Case This was the second pregnancy of a 32-year-old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g, length 55 cm, and occipitofrontal head circumference 41 cm (all > 97th centile). The magnetic resonance imaging (MRI) scans demonstrated enlargement of the lateral ventricles, the trigones, and the occipital horns, hypoplasia of the corpus callosum, a persistent cavum septum pellucidum and cavum vergae, and macrocisterna magna. Conclusions Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis. Copyright © 2002 John Wiley & Sons, Ltd. [source]

Leukocyte cDNA Analysis of NSD1 Derived from Confirmed Sotos Syndrome Patients

ANNALS OF HUMAN GENETICS, Issue 6 2007
M. Duno
Summary Background: Haploinsufficiency of the NSD1 gene leads to Sotos syndrome (Sos), which is characterised by excessive growth, especially during childhood, distinct craniofacial features and variable degree of mental impairment. A wide spectrum of NSD1 mutations have been described in Sos patients, ranging from more than 100 different single nucleotide changes, to partial gene deletions, and to microdeletions of various sizes comprising the entire NSD1 locus. Objective: To investigate the NSD1 cDNA sequence in genetically confirmed Sos patients harbouring truncating and missense mutations. Method: Total RNA was isolated from a 250 ,l standard EDTA blood sample from nine genetically verified Sos patients, and subsequent reverse-transcribed into cDNA followed by PCR and direct sequencing of specific NSD1 cDNA sequences. Results: All nine mutations, including missense, nonsense and whole exon deletions, previously identified in genomic DNA, could confidently be detected in cDNA. Several NSD1 transcript splice variants were detected. Conclusion: Despite the fact that Sos is caused by haploinsufficiency, NSD1 transcripts containing nonsense and frame shift mutations can be detected in leukocyte-derived cDNA. The possibility therefore exists that certain NSD1 mutations are expressed and contribute to the phenotypic variability of Sos. NSD1 cDNA analysis is likely to enhance mutation detection in Sos patients. [source]

Decreased serum dependence in the growth of NIH3T3 cells from the overexpression of human nuclear receptor-binding SET-domain-containing protein 1 (NSD1) or fission yeast su(var)3-9, enhancer-of-zeste, trithorax 2 (SET2)

CELL BIOCHEMISTRY AND FUNCTION, Issue 2 2008
Toshiko Yamada-Okabe
Abstract Nuclear receptor-binding SET-domain-containing protein 1 (NSD1), a culprit gene for Sotos syndrome, contains a su(var)3-9, enhancer-of-zeste, trithorax (SET) domain that is responsible for histone methyltransferase activity and other domains such as plant homeodomain (PHD) and proline-tryptophan-tryptophan-proline (PWWP) involved in protein,protein interactions in the C-terminal half of NSD1. To elucidate the function of NSD1 on cell growth, we overexpressed NSD1 in NIH3T3 cells. Cells overexpressing NSD1 grew in the presence of 2% serum, whereas vector transfected cells did not. Overexpression of the C-terminal half of NSD1 but not the N-terminal half of NSD1 also produced cell growth under low serum concentration. Furthermore, overexpression in NIH3T3 of Schizosaccharomyces pombe SET2 which has a SET domain but not PHD or PWWP domains conferred the reduced serum dependence. Thus, the SET domain of NSD1 is involved in cell growth by modulating serum dependence. Copyright © 2007 John Wiley & Sons, Ltd. [source]