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. 2018 Oct 16;19(10):3189. doi: 10.3390/ijms19103189

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© 2018 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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(a) A partial electropherogram of the Sanger sequencing of NSD1 in the patient shows (black arrow) the “c.[5867T>A]+[=]”; “p.[Leu 1956Gln]+[=]”. Note the green peak, indicating the presence of Adenine, overlapping the red peak, indicating the presence of the wild-type Thymine, which identifies the heterozygous condition. (b) A partial electropherogram of the Sanger sequencing of NSD1 in the parents of the patient. Analysis of parental DNA (black arrows) defined the de novo origin of the missense mutation. (c) The exonic structure of NSD1 (nuclear receptor SET domain containing protein-1) with the functional domains shaded. The red arrow indicates the de novo point mutation in exon 18: “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]”. (d) Conservation of the amino acid Leucine (L) among different species. “Human” refers to the wild-type amino acid sequence in humans. “Mutated” refers to the missense mutation of our patient, where Q is for Glutamine (Gln).

(a) A partial electropherogram of the Sanger sequencing of NSD1 in the patient shows (black arrow) the “c.[5867T>A]+[=]”; “p.[Leu 1956Gln]+[=]”. Note the green peak, indicating the presence of Adenine, overlapping the red peak, indicating the presence of the wild-type Thymine, which identifies the heterozygous condition. (b) A partial electropherogram of the Sanger sequencing of NSD1 in the parents of the patient. Analysis of parental DNA (black arrows) defined the de novo origin of the missense mutation. (c) The exonic structure of NSD1 (nuclear receptor SET domain containing protein-1) with the functional domains shaded. The red arrow indicates the de novo point mutation in exon 18: “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]”. (d) Conservation of the amino acid Leucine (L) among different species. “Human” refers to the wild-type amino acid sequence in humans. “Mutated” refers to the missense mutation of our patient, where Q is for Glutamine (Gln).