A5078111023- Connective tissue disorders research
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Bone health and treatments
- Growth Hormone and Insulin-like Growth Factors
- Peptidase Inhibition and Analysis
- Ubiquitin and proteasome pathways
- Osteoarthritis Treatment and Mechanisms
- Sexual Differentiation and Disorders
- Urological Disorders and Treatments
- RNA Research and Splicing
- COVID-19 Clinical Research Studies
- Fibroblast Growth Factor Research
- Genetics and Neurodevelopmental Disorders
- Moyamoya disease diagnosis and treatment
- Blood groups and transfusion
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
- Urologic and reproductive health conditions
- Alkaline Phosphatase Research Studies
- Neonatal Respiratory Health Research
- Metabolism, Diabetes, and Cancer
- Neurogenetic and Muscular Disorders Research
Hospital Universitario La Paz
2015-2024
Hospital Universitario Infanta Leonor
2009-2024
Universidad Complutense de Madrid
2020-2024
Universidad Autónoma de Madrid
2015-2024
Institute of Molecular Genetics
2020
Instituto de Investigación de Enfermedades Raras
2017
Instituto de Salud Carlos III
2016-2017
Centro de Investigación Biomédica en Red
2016
Hospital Universitario Infanta Sofía
2016
Hospital Universitario de Guadalajara
2009
Abstract Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation. Objective: We sought to characterize phenotypic spectrum and response growth-promoting therapies. Patients Methods: One hundred three individuals (57 females, 46 males) from 20 families heterozygous ACAN were identified confirmed using whole-exome sequencing, targeted next-generation and/or Sanger sequencing. Clinical information was collected...
Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. To investigate cause short stature and determine phenotype patients with IHH mutations, including response recombinant human hormone (rhGH) therapy. We studied 17 families autosomal-dominant by using whole exome sequencing screened defects in 290 Molecular analyses were performed evaluate potential impact N-terminal variants. identified 10 pathogenic or possibly variants IHH, regulator...
In recent years, numerous heterozygous ACAN variants have been identified in individuals with short stature. The phenotypic spectrum includes mild to moderate stature, advanced delayed bone age, dysmorphic features, brachydactyly and/or other skeletal defects and joint pathology early adulthood which often requires surgery. However, only one multiexonic deletion has reported date, a family age childhood osteoarthritis spine deformity the father. Here, we describe 15 from 6 families...
<h3>Background</h3> Pseudohypoparathyroidism (PHP) defines a rare group of disorders whose common feature is resistance to the parathyroid hormone. Patients with PHP-Ia display additional hormone resistance, Albright hereditary osteodystrophy (AHO) and reduced Gsα activity in easily accessible cells. This form PHP associated heterozygous inactivating mutations Gsα-coding exons <i>GNAS</i>, an imprinted gene locus on chromosome 20q13.3. PHP-Ib typically have isolated lack AHO features...
Next generation sequencing (NGS) has expanded the diagnostic paradigm turning focus to growth plate. The aim of study was determine prevalence variants in genes implicated skeletal dysplasias probands with short stature and mild anomalies.Clinical radiological data were collected from 108 anomalies.A customized dysplasia NGS panel performed. Variants classified using ACMG recommendations Sherloc. Anthropometric measurements anomalies subsequently compared those or without an identified...
Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function unknown, it appears participate in assembly or stability both Numerous RMRP mutations have been reported individuals with cartilage-hair hypoplasia (CHH) but, date, only three POP1 described two families features similar anauxetic dysplasia (AD). We present further individuals, one severe...
Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, hypoTrichosis). Using a custom‐designed Next‐generation sequencing skeletal dysplasia panel, we identified two novel homozygous individuals dwarfism. The facial profiles are strikingly similar...
C-type natriuretic peptide (CNP), its endogenous receptor, receptor-B (NPR-B), as well downstream mediator, cyclic guanosine monophosphate (cGMP) dependent protein kinase II (cGKII), have been shown to play a pivotal role in chondrogenic differentiation and endochondral bone growth. In humans, biallelic variants NPR2, encoding NPR-B, cause acromesomelic dysplasia, type Maroteaux, while heterozygous NPR2 (natriuretic receptor 2) NPPC precursor C), CNP, milder phenotypes. contrast, no cGKII,...
Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand feet skeletal anomalies with short stature. Genetic screening individuals stature has increasing over recent years, allowing us broaden clinical spectrum of dysplasias.The objective this article is describe genotype phenotype 16 probands heterozygous IHH.Targeted next-generation sequencing or Sanger was performed patients and/or for which genetic unknown.Fifteen different...
Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two have been associated with SYNS, hand and feet fusion the elbow vertebral lumbar joints. Craniosynostosis was also observed one family. Here, we report clinical radiological description young girl third heterozygous variant, NM_002010.2:c.427A>T;p.(Asn143Tyr), which interestingly, located at same amino...
Heterozygous Indian Hedgehog gene (IHH) variants are associated with brachydactyly type A1 (BDA1). However, in recent years, numerous have been identified patients short stature and more variable forms of brachydactyly. Many located the C-terminal domain IHH (IHH-C), which lacks signaling activity but is critical for auto-cleavage activation N-terminal (IHH-N) peptide. The absence functional studies variants, particularly those IHH-C, has led to these being classified as uncertain significance (VUS).