Fig. 1: Clinical phenotype and telomere length measurement.
From: A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
a Pedigree of the family. Unaffected individuals are shown as open shapes. The carrier is shown as a half-filled shape. Clinically affected individuals are shown as filled shapes. A deceased individual is shown as a shape with a diagonal line. Squares represent males. Circles represent females. b Telomere length measurement by quantitative PCR (qPCR) of peripheral blood cell genomic DNA from patients in the family and age-matched controls. Autosomal single copy gene (36B4) served as the basis for normalizing the telomere quantitative PCR signal. Bar graph of mean fold change for telomere length of age-matched samples relative to patients. Mean values were calculated from triplicate qRT-PCR experiments of three technical replicates, with bars representing SE. c Telomere length measurement by quantitative PCR (qPCR) of peripheral blood cell genomic DNA from the younger patient in the family. Autosomal single copy gene (36B4) served as the basis for normalizing the telomere quantitative PCR signal. Bar graph of mean fold change for telomere length of samples as indicated age relative to the sample from 1.5 years old. Mean values were calculated from triplicate qRT-PCR experiments of three technical replicates, with bars representing standard error of the mean (s.e.m.). Brain MRI showing cerebellar hypoplasia in the elder patient at 2.5 years old (d) and the younger patient at 1 year old (f). An abdominal computed tomography scan revealed hepatosplenomegaly in the elder brother at 1.3 years old (e) and in the younger brother at 3 years old (g and h).
