Anne McRae

Endoscopic corpus callosotomy for drug-resistant epilepsy due to cerebral folate transporter deficiency: illustrative case

Ann B. Townsend, Mahie Gopalka, David Bieber, Jeffrey S. Raskin et autres

BACKGROUND: Cerebral folate transporter deficiency (FOLR1-related CFTD, MIM #613068) is a rare, autosomal recessive neurological disease characterized by markedly deficient CSF folate levels arising from impaired transport of folate across the blood-brain barrier. Current research highlights the role of folinic acid in …

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Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG

Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, Georgia MacDonald et autres

encodes the catalytic subunit of the oligosaccharyltransferase A (OST-A) complex and is classically linked to severe autosomal-recessive congenital disorder of glycosylation (CDG). To define the distinct autosomal-dominant disorder, we reviewed all published cases and integrated three previously unpublished individuals from the CDG …

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P391: Long-read RNA sequencing enables integrated phasing and functional clarification of SLC1A4 variants in autosomal recessive SPATCCM

Anne McRae, Kai Lee Yap, Andrew Drackley, Patrick McMullen

The results were considered non-diagnostic two reasons: first, the variants could not be phased due to the short read lengths generated on the ES platform and second, the variants were classified as VUS, with the functional impact of the silent variant highly …

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P349: Maternally Inherited KCNQ1-associated gingival fibromatosis with pituitary dysfunction: A case report

Anne McRae, Cassandra Heald, Andrea Paras

Baseline studies showed IGF1 <10 ng/mL with normal TSH, T4, and 8am cortisol. MR brain showed normal pituitary size and morphology and was otherwise unremarkable. He was diagnosed with growth hormone deficiency and initiated on replacement therapy, and subsequently diagnosed with thyrotropin …

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P121: Characterizing the burden of gastrointestinal disease in PTPN11-related Noonan syndrome: A single center retrospective cohort study*

Juan Antonio López Ramos, Carlos E. Prada, Arian Nouraee, Pooja Banglorewala et autres

Noonan syndrome (NS) is a clinically and genetically heterogeneous multisystemic disorder often associated with profound gastrointestinal involvement resulting in one of the main areas of concern for individuals with NS and their caregivers. Feeding difficulties, growth delay, and gastrointestinal disorders are frequently …

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati et autres

Neurodevelopmental proteasomopathies are a group of disorders caused by variants in proteasome subunit genes, that disrupt protein homeostasis and brain development through poorly characterized mechanisms. Here, we report 26 distinct variants in PSMC5, encoding the AAA⁺ ATPase subunit PSMC5/RPT6, in individuals with …

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P278: Retrospective characterization of genetics work-up for individuals with RASopathy diagnosis

Carolyn Raski, Renee Wakulski, Anne McRae, Laura Castañeda-Correa et autres

Introduction: Osteogenesis imperfecta (OI) is a genetic condition with improperly or inadequately produced Type I collagen.Manifestations include fractures and bowing deformities that require lifelong orthopedic care.Intellect has been described as typical and psychosocial quality of life measures described as similar to the …

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P360: Expanding the phenotypic spectrum of the nuclear speckleopathy SRRM2-related neurodevelopmental disorder

Kelly E. Regan‐Fendt, Carolyn Raski, Andrea Paras, Anne McRae

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The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND

Leila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, Najlae Boulali et autres

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Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals

Anne McRae, Jaime Duncan, Andy Drackley, Alexander Ing et autres

The recurrent chromosome 16p11.2 BP4-BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early-onset obesity. We identified 22 new individuals with proximal 16p11.2 deletions through retrospective data analysis at our institution and performed phenotyping …

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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Tzung‐Chien Hsieh et autres

Abstract Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study, we identified 23 unique variants in PSMC5 , which encodes the …

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P445: A Sotos syndrome case report: Describing the complex work-up following a variant of uncertain significance in the NSD1 gene

Allegra Quadri, Cassandra Heald, Anne McRae, Joshua F. Baker

Sotos syndrome (OMIM 117550) is an autosomal dominant genetic condition primarily characterized by developmental delays, overgrowth in childhood, and a distinct facial appearance. Heterozygous pathogenic variants or deletions encompassing the NSD1 gene are causative of Sotos syndrome. There are several overgrowth and …

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