Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.

Retinal detachment in a child with Frank-ter Haar syndrome.

Background: To present a rare case of ocular involvement in a child with Frank-ter Haar syndrome (FTHS) presenting retinal detachment.

Materials And Methods: Detailed ophthalmological evaluation including examination under general anesthesia, ocular ultrasound, and visual evoked potential testing was completed. Photographic documentation of the physical findings was obtained.

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.

Objectives: Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the utility of reverse phenotyping.

Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by distinctive facial features, congenital heart defects, Hirschsprung disease, genitourinary anomalies, various structural brain anomalies, and intellectual disability. Pathogenic mutations that result in haploinsufficiency in the gene cause MWS. In this study, we aimed to evaluate the clinical features and molecular analysis results of 4 MWS patients.

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism.

Objective: Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. knockout mice models exhibit disorders such as diabetes, hyperproinsulinaemia, low bone mineral density and neurodevelopmental disorders. Only one patient is described with morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotropic hypogonadism, which was associated with a homozygous frameshift deletion in .

Asthma control test and pediatric asthma quality of life questionnaire association in children with poor asthma control.

The aim of this study was to evaluate the association between Pediatric Asthma Quality of Life Questionnaire (PAQLQ) and Asthma Control Test (ACT) in patients with poor asthma control. Children between 7-17 years of age with diagnosis of persistent asthma who are not on daily inhaler corticosteroid therapy were involved. At enrollment, sociodemographic and asthmatic characteristics were investigated and pulmonary function test (PFT), ACT and PAQLQ were administered.