Öz
Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, facial gestalt and developmental delay. The associated gene encodes nuclear receptor binding SET domain protein 1 (NSD1), whose mutations account for > %80 of white patients. Majority of the cases are sporadic, though autosomal dominant pedigrees have been published. The prevalance of Sotos’s syndrome is estimated at 1:10,000 to 1:50,000. Overgrowth of the hands, feet and chin overlap with the clinical features of acromegaly. Here, we present a 15.5 year old boy who was being followed as acromegaly and sent to our clinics for determining the etiology of mental retardation. In chromosomal analyses, t(3;6)(p21;p25) was observed, the fully karyotype was diagnosed as 46, XY, t(3;6)(p21;p25). In his detailed familial chromosomal analyses, the same translocation was found in his father karyotype. As a result, Sotos syndrome should be in the differential diagnosis list of any patient who has acromegalic features accompanying mental retardation.
Anahtar Kelimeler
Sotos syndrome acromegaly mental retardation translocation carrier macrocephaly
Kaynakça
- Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. Cerebral gigantism in childhood: a syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 1964; 27: 109-16.
- Hook EB, Reynolds JW. Cerebral gigantism: endocrinological and clinical observations of six patients including congenital giant, concordant monozygotic twins, and a child who achieved adult gigantic size. J Pediatr 1967; 70: 900-14.
- Cole TRP, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994;31: 20-32.
- Allanson JE, Cole TR. Sotos syndrome: evolution of facial phenotype: subjective and objective assessment. Am J Med Genet 1996; 65: 13-20.
- Kurotaki N, Imaizumi K, Harada N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30:365-6.
- Douglas J, Hanks S, Temple IK. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in overgrowth phenotypes. Am J Hum Genet 2003;72: 132-43.
- Opitz JM, Weaver DW, Reynolds JF Jr. The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 1998;79: 294-304.
- Höglund P, Kurotaki N, Kytöla S, Miyake N, Somer M, Matsumoto N. Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. J Med Genet 2003;49: 51-4.
- Kurotaki N, Harada N, Shimokawa O. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 2003; 22: 378-87.
- Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H. A Clinical Study of Sotos Syndrome Patients With Review of The Literature. Ped Neuro 2009; 40: 357-64.
- Gardner McKinlay RJ, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. 3rd Edition, Oxford Un. Press. UK. 2004.
Öz
Sotos sendromu; makrosefali, tipik yüz görünümü ve gelişim geriliği ile karakterize bir aşırı büyüme sendromudur. Sendromdan sorumlu gen nükleer reseptör bağlayıcı SET domain1 (NSD1) proteinini kodlar. Beyaz ırkta hastaların %80’inden fazlasında mutasyonları gösterilmiştir. Olguların çoğu sporadik olup, otozomal dominant kalıtım modeline uyan aileler bildirilmiştir. Sotos sendromunun prevalansı 1:10,000 ile 1:50,000 arasındadır. El, ayak ve çenedeki aşırı büyüme, klinik bulgu olarak akromegali ile karıştırılmaktadır. Burada, akromegali tanısıyla takipli olup mental retardasyon etiyolojisinin araştırılması için polikliniğimize yönlendirilen 15,5 yaşında bir erkek olgu sunulmaktadır. Olgunun kromozom analizinde 46, XY, t(3;6)(p21;p25) karyotipinde olduğu ve olguya ait aile taramasında ise transloke kromozomun paternal orijinli olduğu saptanmıştır. Sonuç olarak akromegali benzeri bulgular gösteren zeka geriliği bulunan olgularda ayırıcı tanıda Sotos sendromu mutlaka düşünülmelidir.
Anahtar Kelimeler
Sotos sendromu akromegali zeka geriliği translokasyon taşıyıcılığı makrosefali
Kaynakça
- Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. Cerebral gigantism in childhood: a syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 1964; 27: 109-16.
- Hook EB, Reynolds JW. Cerebral gigantism: endocrinological and clinical observations of six patients including congenital giant, concordant monozygotic twins, and a child who achieved adult gigantic size. J Pediatr 1967; 70: 900-14.
- Cole TRP, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994;31: 20-32.
- Allanson JE, Cole TR. Sotos syndrome: evolution of facial phenotype: subjective and objective assessment. Am J Med Genet 1996; 65: 13-20.
- Kurotaki N, Imaizumi K, Harada N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30:365-6.
- Douglas J, Hanks S, Temple IK. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in overgrowth phenotypes. Am J Hum Genet 2003;72: 132-43.
- Opitz JM, Weaver DW, Reynolds JF Jr. The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 1998;79: 294-304.
- Höglund P, Kurotaki N, Kytöla S, Miyake N, Somer M, Matsumoto N. Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. J Med Genet 2003;49: 51-4.
- Kurotaki N, Harada N, Shimokawa O. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 2003; 22: 378-87.
- Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H. A Clinical Study of Sotos Syndrome Patients With Review of The Literature. Ped Neuro 2009; 40: 357-64.
- Gardner McKinlay RJ, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. 3rd Edition, Oxford Un. Press. UK. 2004.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 14 Eylül 2010 |
| Yayımlandığı Sayı | Yıl 2010Cilt: 32 Sayı: 3 |