Next Article in Journal
Yeast Genome Maintenance by the Multifunctional PIF1 DNA Helicase Family
Next Article in Special Issue
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
Previous Article in Journal
AaCOI1, Encoding a CORONATINE INSENSITIVE 1-Like Protein of Artemisia annua L., Is Involved in Development, Defense, and Anthocyanin Synthesis
Previous Article in Special Issue
Finding the Unicorn, a New Mouse Model of Midfacial Clefting
genes-logo
Article Menu
Open AccessCase Report

Two Novel FAM20C Variants in a Family with Raine Syndrome

1
Laboratory of Cellular and Molecular Morphology, Section of Postgraduate Studies and Research, Escuela Superior de Medicina, Instituto Politécnico Nacional, Salvador Díaz Mirón esq. Plan de San Luis S/N, Miguel Hidalgo, Casco de Santo Tomas, Mexico City 11340, Mexico
2
Direction and Division of Research, Hospital Juárez de México, Av. Instituto Politécnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico
3
Service of Clinical Pharmacology, Hospital General de México, Dr. Balmis 148, Doctores, Cuauhtémoc, Mexico City 06720, Mexico
4
National Institute of Perinatology, Calle Montes Urales 800, Lomas - Virreyes, Lomas de Chapultepec IV Section, Miguel Hidalgo, Mexico City 11000, Mexico
5
Deparment of Ginecology, Hospital Juárez de México, Av. Instituto Politécnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico
6
Department of Pathology, Hospital Juárez de México, Av. Instituto Politécnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico
7
Department of Radiology & Imagenology, Hospital Juárez de México, Av. Instituto Politécnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico
*
Author to whom correspondence should be addressed.
Genes 2020, 11(2), 222; https://doi.org/10.3390/genes11020222
Received: 29 November 2019 / Revised: 30 January 2020 / Accepted: 14 February 2020 / Published: 20 February 2020
(This article belongs to the Special Issue Molecular Genetics of Facial Traits and Malformations)
Two siblings from a Mexican family who carried lethal Raine syndrome are presented. A newborn term male (case 1) and his 21 gestational week brother (case 2), with a similar osteosclerotic pattern: generalized osteosclerosis, which is more evident in facial bones and cranial base. Prenatal findings at 21 weeks and histopathological features for case 2 are described. A novel combination of biallelic FAM20C pathogenic variants were detected, a maternal cytosine duplication at position 456 and a paternal deletion of a cytosine in position 474 in exon 1, which change the reading frame with a premature termination at codon 207 and 185 respectively. These changes are in concordance with a negative detection of the protein in liver and kidney as shown in case 2. Necropsy showed absence of pancreatic Langerhans Islets, which are reported here for the first time. Corpus callosum absence is added to the few reported cases of brain defects in Raine syndrome. This report shows two new FAM20C variants not described previously, and negative protein detection in the liver and the kidney. We highlight that lethal Raine syndrome is well defined as early as 21 weeks, including mineralization defects and craniofacial features. Pancreas and brain defects found here in FAM20C deficiency extend the functional spectrum of this protein to previously unknown organs. View Full-Text
Keywords: lethal Raine syndrome; FAM20C; new variants; histopathology lethal Raine syndrome; FAM20C; new variants; histopathology
Show Figures

Figure 1

MDPI and ACS Style

Hernández-Zavala, A.; Cortés-Camacho, F.; Palma-Lara, I.; Godínez-Aguilar, R.; Espinosa, A.M.; Pérez-Durán, J.; Villanueva-Ocampo, P.; Ugarte-Briones, C.; Serrano-Bello, C.A.; Sánchez-Santiago, P.J.; Bonilla-Delgado, J.; Yáñez-López, M.A.; Victoria-Acosta, G.; López-Ornelas, A.; García Alonso-Themann, P.; Moreno, J.; Palacios-Reyes, C. Two Novel FAM20C Variants in a Family with Raine Syndrome. Genes 2020, 11, 222.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop