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Start Over Author "Santos FJR" Publisher wiley-blackwell
2 results on '"Santos FJR"'

1. Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.

Author

Regan-Fendt KE, Rippert AL, Medne L, Skraban CM, DeJesse J, Gray C, Reichert SL, Staropoli NP, Santos FJR, Krantz ID, Murrell JR, and Izumi K

Subjects
Humans, Child, Developmental Disabilities genetics, Developmental Disabilities pathology, Retrospective Studies, Hospitals, RNA-Binding Proteins, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders genetics, Intellectual Disability diagnosis, Intellectual Disability genetics, Intellectual Disability pathology
Abstract

SRRM2-related neurodevelopmental disorder is a recently described genetic diagnosis caused by loss-of-function variants in SRRM2. In order to understand the clinical spectrum of SRRM2-related neurodevelopmental disorder, we performed a retrospective exome data and clinical chart review at a single tertiary children's hospital, Children's Hospital of Philadelphia (CHOP). Among approximately 3100 clinical exome sequencing cases performed at CHOP, we identified three patients with SRRM2 loss-of-function pathogenic variants, in addition to one patient previously described in the literature. Common clinical features include developmental delay, attention deficit hyperactivity disorder, macrocephaly, hypotonia, gastroesophageal reflux, overweight/obesity, and autism. While developmental disabilities are commonly seen in all individuals with SRRM2 variants, the degree of developmental delay and intellectual disability is variable. Our data suggest that SRRM2-related neurodevelopmental disorder can be identified in 0.3% of individuals with developmental disabilities receiving exome sequencing., (© 2023 Wiley Periodicals LLC.)

Published
2023
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2. Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Author

Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, and Ganapathi M

Subjects
Pregnancy, Humans, Female, Genotype, Phenotype, Microtubule-Associated Proteins genetics, Microcephaly diagnosis, Microcephaly genetics, Microcephaly complications, Retinal Diseases
Abstract

Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life. The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial reproductive plans. To date, only seven molecularly confirmed patients from five unrelated families have been reported. We report an additional four unrelated patients with TUBGCP6 variants including one prenatal diagnosis and review the clinical phenotypes and genotypes of all the known cases. This report expands the molecular and phenotypic spectrum of TUBGCP6 and includes additional prenatal findings associated with MCCRP1., (© 2023 Wiley Periodicals LLC.)

Published
2023
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