Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance. Subsequent genetic testing demonstrated a 97 kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2. This is the first reported case of CNPAS in siblings, both males, sharing a maternally inherited Xp22.2 deletion.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.36415 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Choroidal Neovascularization in a Female Carrier of Ocular Albinism with a GPR143 Mutation.
Korean J Ophthalmol
December 2024
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
J Med Case Rep
December 2024
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
View Article and Find Full Text PDFNystagmus in infancy: causes, characteristics and main tools for diagnosis.
Eye (Lond)
December 2024
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Background: Nystagmus in infancy may occur as part of an ocular condition, a neurological disorder or be idiopathic. The objective of our study was to evaluate the main causes for nystagmus in infants aged 0-1 year, the accompanying clinical characteristics and the effectiveness of different diagnostic tests used for reaching definite diagnosis.
Methods: A retrospective study was conducted on medical records of infants who were seen at a tertiary hospital between 2016 and 2021.
L-DOPA Promotes Functional Proliferation Through GPR143, Specific L-DOPA Receptor of Astrocytes.
ACS Chem Neurosci
November 2024
Center for Global Biopharmaceutical Research, Korea Institute of Toxicology, Daejeon 34114, South Korea.
l-3,4-Dihydroxyphenylalanine (levodopa and L-DOPA in this text), alongside dopamine, boasts high biocompatibility, prompting industrial demand for its use as a coating material. Indeed, the effectiveness of L-DOPA is steadily rising as it serves as an oral therapeutic agent for neurodegenerative brain diseases, particularly Parkinson's disease (PD). However, the effects of L-DOPA on the growth and function of astrocytes, the main glial cells, and the most numerous glial cells in the brain, are unknown.
View Article and Find Full Text PDFMasks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Int J Mol Sci
October 2024
Research Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.
Article Synopsis
- Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder with 11 genetic subtypes linked to dysfunction in specific protein complexes, leading to symptoms like albinism, bleeding disorders, and visual impairments.
- A study examined 11 patients from eight families with albinism, discovering both novel and previously identified genetic variants related to HPS1, HPS6, and HPS9.
- To devise effective treatment and follow-up strategies, a comprehensive understanding of the disease's clinical and genetic diversity is crucial, often requiring interdisciplinary methods and advanced diagnostic techniques like RNA analysis.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!