NDLI: Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

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Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

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Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Martínez-Fernández, María Luisa Bermejo-Sánchez, Eva Fernández, Belén MacDonald, Alexandra Fernández-Toral, Joaquín Martínez-Frías, María Luisa
Description	Country affiliation: Spain Author Affiliation: Martínez-Fernández ML ( CIBER de Enfermedades Raras (CIBERER) (U724), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain)
Abstract	In 2005, we reported on a family as having Frías syndrome (OMIM: 609640), with four affected members displaying a pattern of congenital defects nearly identical to those observed in a mother and son described by Frias [Frías et al. (1975). Birth Defects Orig Artic Ser 11:30-33]. These defects included growth deficiency, facial anomalies, and hand and foot alterations. We had the opportunity to study this family again due to the birth of another affected girl, who presented with similar facial characteristics to those of her elder half-sister and the rest of affected relatives, which consisted of mild exophthalmia, bilateral palpebral ptosis, downslanting palpebral fissures, and hypertelorism. We performed array-CGH, which identified an identical interstitial deletion of chromosome 14q22.1-q22.3 in the mother and two daughters. The deletion is 4.06 Mb in length and includes the BMP4 gene, a member of the bone morphogenetic protein (BMP) family of secreted proteins. A review of the literature showed that deletions or mutations of this gene underlie congenital defects affecting brain, eye, teeth, and digit development. Although the clinical manifestations of the current family correlate with the defects observed in patients having either 14q22-q23 deletions or mutations of BMP4, they show a milder phenotype. In order to understand the clinical variability, we evaluated the already known functional characteristics of the BMP gene members. This gene family plays an important role during early embryogenesis, and the complex synergistic functions and redundancies of the BMPs led us to conclude that haploinsufficiency of BMP4 is likely to be responsible for the clinical expression of Frías syndrome.
File Format	HTM / HTML
ISSN	15524825
Issue Number	2
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-02-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Bone Morphogenetic Protein 4 Genetics Face Abnormalities Foot Deformities, Congenital Diagnosis Growth Disorders Haploinsufficiency Child Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 14 Comparative Genomic Hybridization Facies Female Gene Deletion Humans Infant, Newborn Pedigree Phenotype Case Reports Journal Article Research Support, Non-u.s. Gov't Review
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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