Fanconi Anemia and Laron Syndrome

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Fanconi Anemia and Laron Syndrome Inma Castilla-Cortazar, MD, PhD, Julieta Rodriguez de Ita, MD, PhD, Gabriel Amador Aguirre, MSc, Fabiola Castorena-Torres, PhD, Jesús Ortiz-Urbina, MD, Mariano García-Magariño, PhD, Rocío García de la Garza, MD, PhD, Carlos Diaz Olachea, MD, Martha Irma Elizondo Leal, PhD The American Journal of the Medical Sciences Volume 353, Issue 5, Pages 425-432 (May 2017) DOI: 10.1016/j.amjms.2017.02.001 Copyright © 2017 The Authors Terms and Conditions

FIGURE 1 Radiologic (at 3 years 6 months of age—June 1998) and ocular examination (at 21 years of age) of the patient. (A and B) Congenital dislocation of the hip; (C) clustering of immature teeth and incisive rotation; (D) scoliosis of the spinal cord; (E and F) retardation in skeletal maturation: bone age of 2 years 3 months, delayed 1 year and 3 months compared to chronological age; (G-I) abnormally low short stature of 130cm (−5 standard deviations) and (H) scoliosis of the spinal cord. The American Journal of the Medical Sciences 2017 353, 425-432DOI: (10.1016/j.amjms.2017.02.001) Copyright © 2017 The Authors Terms and Conditions

FIGURE 2 Assembly of the Fanconi anemia (FA) core complex in the cytoplasm and nucleus. The FA core complex (FANCA, FANCC, FANCF, FANCG and FANCE), sensors and interstrand cross-links. The core complex functions as a multisubunit E3 ubiquitin ligase that monoubiquitinates the heterodimer ID complex formed by FANCD2 and FANCI. The ubiquitinated ID complex translocates to chromatin, where it interacts with downstream proteins in the FA pathway such as FANCD1-BRCA2, FANCN-PALB2, FANCJ-BRIP1, FANCP-SLX4, FANCO-RAD51C, BRCA1 and the nuclease FAN1. These downstream FA proteins repair DNA via homologous recombination. The American Journal of the Medical Sciences 2017 353, 425-432DOI: (10.1016/j.amjms.2017.02.001) Copyright © 2017 The Authors Terms and Conditions

FIGURE 3 Growth hormone receptor (GHR) signaling pathway. Growth hormone (GH) binds and activates the extracellular domain of the GHR, thus inducing the autophosphorylation of JAK2. Phosphorylated JAK2 subsequently triggers the phosphorylation and activation of STAT5b. Activated STAT5b forms a dimer and translocates to the nucleus, where it activates the transcription of different target genes, including IGF-1 and ALS. IGF-1, insulin-like growth factor 1; JAK2, Janus Kinase 2; ALS, Acid Labile Subunit. The American Journal of the Medical Sciences 2017 353, 425-432DOI: (10.1016/j.amjms.2017.02.001) Copyright © 2017 The Authors Terms and Conditions