The authors identified a missense variant in KCNA4 in four patients from a consanguineous family. Patients presented a novel syndrome of congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder.
The authors identified de novo nonsense variants in KIDINS220 in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity. They named that syndrome ‘SINO’.
Using whole exome sequencing, the authors identified de novo heterozygous PHIP variants, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features.
In this study, the authors reported five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. Haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.
Social networking among families, clinicians, and researchers was used to identify three children with variants of unknown significance in KDM1A and similar phenotypes. De novo variants in KDM1A underlied a new syndrome characterised by developmental delay and distinctive facial features. All three individuals shared a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and wide-spaced teeth.
The authors identified a de novo missense variant in CHD7 in a family presenting with musculoskeletal abnormalities. They presented with prominent scapulae, mild shoulder girdle weakness and subtle dysmorphic features.
Four consanguineous Palestinian families presented with oligodontia and hair and skin features of ectodermal dysplasia. Appearance of ectodermal dysplasia was consistent with autosomal recessive inheritance. Exome sequencing suggested that the phenotype was due to homozygosity for KREMEN1.
A review published in Nature Reviews Genetics traces the history of prenatal and preimplantation genetic testing and its developments. It also provides an overview of progress in utilisation of genome-wide single-cell and cell-free foetal DNA. The review describes the key milestones from the period when the first prenatal genetic test was performed in 1966 and building of mouse models for pre-implantation genetic testing to the cutting edge technology that is available today. The article also describes the challenges associated with the technology, especially single-cell genome analysis as well as the helpfulness of these tests for identifying causes of developmental disorders.
A disease registry for Paroxysmal nocturnal hemoglobinuria (PNH), a rare and acquired hematopoietic stem cell disease, in Taiwan is published in Thrombosis Journal. According to the data from the patients registered between 2009- 2015 the patients are diagnosed at the age of around 46, have a high level of “lactate dehydrogenase, lower haemoglobin, and higher frequencies of symptom including shortness of breath and erectile dysfunction at the time of diagnosis.”
An article published in Orphanet Journal of Rare Diseases describe the formalisation of the process wherein rare disease patient organisations request the services of biobanks belonging to the Telethon Network of Genetic Biobanks (TNGB). They are composed of 11 Italian non-profit repositories with more than 90,000 biological samples representing approximately 850 distinct rare genetic diseases. They have generated 13 written agreements, which according to the authors, organisations “enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community.” The article describes the tasks of TNGB and the patient organisations that will help with enhanced collaboration, increasing awareness of rare diseases and satisfy the current and future demands of the researchers engaged in studies of rare diseases.
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.
The European Journal of Human Genetics has published five new Clinical Utility Gene Card for:
Peters plus syndrome
Wolfram syndrome
Congenital generalised lipodystrophy
Aniridia
Familial platelet syndrome with predisposition to acute myelogenous leukaemia
The European Journal of Human Genetics has published one updated Clinical Utility Gene Card for:
Meckel syndrome
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Four new GeneReviews have been published for:
MBD5 haploinsufficiency
Kaufman oculocerebrofacial syndrome
BAP1 tumour predisposition syndrome
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
Six updated GeneReviews have been published for:
Ataxia-telangiectasia
Phenylalanine hydroxylase deficiency Phenylketonuria
Wilms tumour predisposition
Ataxia with vitamin E deficiency
Catecholaminergic polymorphic ventricular tachycardia
Epidermolysis bullosa simplex