A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in...
Source: European Journal of Medical Genetics - January 28, 2024 Category: Genetics & Stem Cells Authors: Merve So ğukpınar Eda Utine Koray Boduro ğlu Pelin Özlem Şimşek-Kiper Source Type: research
Peri-clitoral epidermal inclusion cyst as initial presentation of lichen sclerosus in a pediatric patient
Lichen sclerosus (LS) is a chronic inflammatory disorder, presenting with pruritis and hypopigmentation of vulvar and anogenital skin. LS presenting as a peri-clitoral mass has not been previously described. (Source: Journal of Pediatric and Adolescent Gynecology)
Source: Journal of Pediatric and Adolescent Gynecology - January 24, 2024 Category: OBGYN Authors: Emily Huebner, Kate Debiec, Angela Hernandez, Lissa Yu Source Type: research
Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China
Clin Genet. 2024 Jan 23. doi: 10.1111/cge.14477. Online ahead of print.ABSTRACTThe genotype-phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and clinical characteristics of different genotypes of PWS in children. We aimed to explore the influence of specific gene changes on the clinical symptoms of PWS and the value of early screening and early intervention of the condition. All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected information included basic demographics, maternal pregnancy information, endoc...
Source: Clinical Genetics - January 23, 2024 Category: Genetics & Stem Cells Authors: Shujiong Mao Lili Yang Ying Gao Chaochun Zou Source Type: research
Racial Disparities in Mycosis Fungoides/S ézary Syndrome-A Single-Center Observational Study of 292 Patients
CONCLUSIONS: AA/black patients with MF/SS have a significant worse survival outcome compared to white patients. The association between clinical phenotypes and survival differed between these groups. Further studies are required to investigate whether race-specific pathogenesis or genetic factors may explain these differences.PMID:38245472 | DOI:10.1016/j.clml.2023.12.017 (Source: Clinical Lymphoma and Myeloma)
Source: Clinical Lymphoma and Myeloma - January 20, 2024 Category: Cancer & Oncology Authors: Ashley R Gandham Shamir Geller Stephen W Dusza Thomas S Kupper Patricia L Myskowski Source Type: research
< em > GPR143 < /em > mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China
CONCLUSIONS: We discovered seven novel mutations and four previously reported mutations of GPR143 in a cohort of families with X-linked INS and enlarged the Chinese genetic spectrum of INS. These findings offer new insights for developing genetic screening strategies and shed light on the importance of conducting genetic analysis in confirming the clinical diagnosis in unresolved patients and atypical phenotypes.PMID:38222445 | PMC:PMC10784212 (Source: Molecular Vision)
Source: Molecular Vision - January 15, 2024 Category: Molecular Biology Authors: Jingling Xu Yihan Zheng Lulu Cheng Huihui Sun Xinping Yu Feng Gu E Song Source Type: research
Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child
We describe a 15-year-old Malaysian female who presented with the characteristic triad of ESCO2 spectrum disorder, with an equivocal chromosomal breakage study and normal karyotyping findings. She was initially suspected to have mosaic Fanconi anemia but whole exome sequencing (WES) showed a likely pathogenic homozygous splice variant c.955 + 2_955+5del in the ESCO2 gene. During the 15-year diagnostic odyssey, she developed type 2 diabetes mellitus, primary ovarian insufficiency, increased optic cup-to-disc ratio with tortuous vessels bilaterally, and an evolving but distinct facial and skin hypopigmentation phenotype. Of ...
Source: Frontiers in Genetics - January 15, 2024 Category: Genetics & Stem Cells Source Type: research
Racial Disparities in Mycosis Fungoides/S ézary Syndrome–A Single-Center Observational Study of 292 Patients
We report worse survival in black patients compared to white patients with different survival risk for hypopigmentation, erythroderma and ulceration between the races. The underlying mechanisms require further investigation and may have impact on treatment strategies in these groups. (Source: Clinical Lymphoma, Myeloma and Leukemia)
Source: Clinical Lymphoma, Myeloma and Leukemia - January 3, 2024 Category: Hematology Authors: Ashley R. Gandham, Shamir Geller, Stephen W. Dusza, Thomas S. Kupper, Patricia. L. Myskowski Tags: Original Study Source Type: research
Ocular manifestations in Koolen-de Vries syndrome: an international study
CONCLUSIONS: KdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4-6 months of age for diagnosed newborns.PMID:38145626 | DOI:10.1016/j.jcjo.2023.11.021 (Source: Canadian Journal of Ophthalmology)
Source: Canadian Journal of Ophthalmology - December 25, 2023 Category: Opthalmology Authors: Dafna Shalev David A Koolen Bert B A de Vries Sharon Blum Meirovitch Jean-Louis Mandel Pauline Burger Alik Rosenfeld Guy J Ben Simon Daphna Landau Prat Source Type: research
TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations
In conclusion: The TYR patients exhibited severe ocular phenotypes: the majority (93.8%, 15/16) of them had a moderate vision impairment or worse, and 100% (12/12) had severe grade 4 foveal hypoplasia. These novel findings could provide insight into the understanding of OCA.PMID:38145795 | DOI:10.1016/j.exer.2023.109761 (Source: Experimental Eye Research)
Source: Experimental Eye Research - December 25, 2023 Category: Opthalmology Authors: Chonglin Chen Jun Li Bingqi Wang Yinghuan Wang Xinping Yu Source Type: research
