Publications by authors named "Ignacio Arroyo Carrera"

Article Synopsis
  • Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, caused by variations in the FBN1 gene and presenting with significant variations in symptoms, particularly affecting the heart, eyes, and bones.
  • A case is presented of a child with a Marfan systemic score of 9, who was found to have two rare pathogenic mosaic variants in the FBN1 gene, detected in both buccal and leukocyte cells—indicating an early mutation.
  • The authors suggest that a defective repair process of a new variant in the DNA might explain why this child has two distinct populations of cells with mutated genes, a rare occurrence in MFS cases.
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Missense and frameshift pathogenic variants and microdeletions involving TBL1XR1 gene have been described in patients with intellectual disability, autism, Rett-like features and schizophrenia, some of them with the clinical diagnosis of Pierpont syndrome, a rare pattern of multiple congenital anomalies, but others without dysmorphic findings or with non-specific ones, and also patients with only some of the features associated with Pierpont syndrome. We here present a case with a de novo novel missense variant in TBL1XR1 gene with overlapping features with Pierpont syndrome and autism, a neurobehavioral manifestation not previously reported in Pierpont syndrome. This patient expands the phenotypic spectrum of TBL1XR1 gene pathogenic variants.

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The Xp22.31 duplication is a copy number variant which is challenging to categorize as pathogenic or benign. There is an increasing number of patients with the duplication and a neurobehavioral phenotype, but the duplication is almost always inherited from a parent, who in some cases is phenotypically normal.

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Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.

Aim: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.

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The association of maternal uniparental disomy of human chromosome 7 (upd(7) mat) and the growth retardation disorder Silver-Russell syndrome (SRS) is well established, but the causative gene or region is currently unknown. However, several observations indicate that molecular alterations of the genomically imprinted MEST region in 7q32.2 are associated with growth retardation and a phenotype reminiscent to SRS.

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Introduction: The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.

Case Report: We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5.

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Background: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited.

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Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This syndrome is caused by mutations in the RAB3GAP1/2 and RAB18 genes, part of the Rab family, and in the TBC1D20 gene, which contributes to lipid droplet formation/metabolism. Here we present a patient with clinical diagnosis of WARBM syndrome, who did not have mutations in either the RAB3GAP1/2 genes, in the main exons of RAB18, nor in the TBC1D20 gene.

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Congenital disorders of glycosylation (CDG) are due to either defects in the synthesis of the glycan moiety of glycoproteins or glycolipids and in the attachment of the glycans to proteins and lipids. Some 50 CDG have been identified. They represent a challenge for clinicians because most are multisystem diseases with a heterogeneous spectrum of clinical manifestations with involvement of any organ and system.

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Brucellosis is a zoonosis transmittable to humans. The transmission is mainly by consumption of unpasteurized milk or its products. Cases in the first year are very uncommon and other modes of transmission are responsible at this age.

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Abdominal wall defects distant from the umbilicus are very unusual. We describe a patient with a congenital defect adjacent and external to the lateral border of the recti muscles, rounded in shape, bilateral and symmetrical, but affecting different structures in each side, musculocutaneous agenesis in the left side and only muscle agenesis in the right one. The morphologic characteristics of the defect and the absence of associated anomalies, suggest that this anomaly may be the result of an event acting during phenogenesis.

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