Abstract
A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalies, macrocephaly, advanced bone age, and learning disabilities. Manifestations in the present family include dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics
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Adolescent
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Child
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Craniofacial Abnormalities / genetics*
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DNA Mutational Analysis
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Female
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Gigantism / genetics*
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Histone Methyltransferases
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Histone-Lysine N-Methyltransferase
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Humans
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Intracellular Signaling Peptides and Proteins / genetics*
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Male
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Mutation
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Nuclear Proteins / genetics*
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Pedigree
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Syndrome
Substances
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Intracellular Signaling Peptides and Proteins
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Nuclear Proteins
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Histone Methyltransferases
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Histone-Lysine N-Methyltransferase
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NSD1 protein, human