LETTER TO JMG

Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

P Höglund^1,2, N Kurotaki^3,4, S Kytölä⁵, N Miyake^3,4, M Somer², N Matsumoto^3,4

¹ Department of Paediatrics, University of Helsinki, Helsinki, Finland
² Department of Clinical Genetics, University of Helsinki, Helsinki, Finland
³ Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
⁴ CREST, Science and Technology Corporation, Kawaguchi, Japan
⁵ Medix Laboratories Ltd, Espoo, Finland and Institute of Medical Technology, University of Tampere and Tampere University Hospital, Finland

Correspondence to:
Correspondence to:
Dr P Höglund, Hospital for Children and Adolescents, P O Box 281 (Stenbäckinkatu 11), 00029 HUS, Finland;
Pia.Hoglund@Hus.Fi or Pia.Hoglund@Helsinki.Fi

Keywords: familial Sotos syndrome; NSD1

The first 150 words of the full text of this article appear below.

Sotos syndrome (SS) or cerebral gigantism (OMIM *117550) is characterised by excessive growth, advanced bone age, typical facial gestalt, and developmental delay.^1,2 In infancy growth is rapid, but settles down above the >97th centile in early childhood^3,4 and tends to follow this during childhood. The adult height remains close to normal.⁴ The hands and feet are large. The facial gestalt is very characteristic during childhood with macrocephaly (>97th centile), frontal bossing, prognathism, hypertelorism, and antimongoloid slant of the palpebral fissures. With increasing age, the face gradually lengthens, the jaw becomes more prominent, and macrocephaly is no longer pronounced.^5,6 Neurological features are variable and include hypotonia and delay in motor and language development, with a tendency for improvement with age.^1,2,5–9 Familial SS is rare. Only 17 families have been reported, most of which show an autosomal dominant mode of inheritance.^5,6,10–19

Recent advances have shown a molecular genetic basis for sporadic SS. . . . [Full text of this article]

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This article has been cited by other articles:

• Kamimura, J, Endo, Y, Kurotaki, N, Kinoshita, A, Miyake, N, Shimokawa, O, Harada, N, Visser, R, Ohashi, H, Miyakawa, K, Gerritsen, J, Innes, A M, Lagace, L, Frydman, M, Okamoto, N, Puttinger, R, Raskin, S, Resic, B, Culic, V, Yoshiura, K, Ohta, T, Kishino, T, Ishikawa, M, Niikawa, N, Matsumoto, N (2003). Identification of eight novel NSD1 mutations in Sotos syndrome. J. Med. Genet. 40: e126-126 [Full Text]