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Article ; Online: An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.

Kashima, Daniel T / Sloan-Heggen, Christina M / Gottlieb-Smith, Rachel J / Barone Pritchard, Amanda

American journal of medical genetics. Part A

2023 Volume 191, Issue 6, Page(s) 1614–1618

Abstract: Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ... ...

Abstract	Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in urine. In this case report, we describe a patient with only mild speech and gross motor delays, subtle biochemical abnormalities, and normal brain imaging found to be homozygous for a pathogenic ETHE1 variant (c.586G>A) via whole exome sequencing. This case highlights the clinical heterogeneity of ETHE1 mutations and the utility of whole-exome sequencing in diagnosing mild cases of EE.
MeSH term(s)	Humans ; Brain Diseases, Metabolic, Inborn/diagnosis ; Brain Diseases, Metabolic, Inborn/genetics ; Purpura/diagnosis ; Purpura/genetics ; Brain/pathology ; Brain Diseases/diagnosis ; Brain Diseases/genetics ; Brain Diseases/pathology ; Mitochondrial Proteins/genetics ; Nucleocytoplasmic Transport Proteins/genetics
Chemical Substances	Mitochondrial Proteins ; ETHE1 protein, human ; Nucleocytoplasmic Transport Proteins
Language	English
Publishing date	2023-03-09
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63176
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Article ; Online: Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic

Parekh, Bela / Beil, Adelyn / Blevins, Bridget / Jacobson, Adam / Williams, Pamela / Innis, Jeffrey W. / Barone Pritchard, Amanda / Prasov, Lev

Genes (Basel). 2023 Mar. 15, v. 14, no. 3

2023

Abstract: The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow ...

Abstract	The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our multidisciplinary team followed by discussions on diagnosis, prognosis, and genetic testing. Testing approaches are specific to each patient and can be targeted (single-gene, gene panel), broad (chromosomal microarray, whole-exome sequencing), or a combination. We hypothesize that this clinic model improves patient outcomes and quality of care. A retrospective chart review of patients in the MOGC from July 2020 to October 2022 revealed that the most common referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with 52% syndromic cases. Within this patient cohort, we saw a 76% uptake for genetic testing, among which 33% received a diagnostic test result. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics.
Keywords	genes ; microarray technology ; models ; patients ; peripheral nervous system diseases ; prognosis ; therapeutics ; Michigan
Language	English
Dates of publication	2023-0315
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14030726
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.

Pritchard, Amanda Barone / Strong, Alanna / Ficicioglu, Can

Orphanet journal of rare diseases

2020 Volume 15, Issue 1, Page(s) 58

Abstract: Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides. The phenotypic spectrum is ...

Abstract	Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides. The phenotypic spectrum is diverse, ranging from severe, neonatal onset failure to thrive, hepatomegaly, hepatic fibrosis, malabsorption and adrenal insufficiency to childhood-onset hyperlipidemia, hepatomegaly, and hepatic fibrosis. Sebelipase alfa enzyme replacement has been approved by the Food and Drug Administration for use in LALD after demonstrating dramatic improvement in transaminitis and dyslipidemia with initiation of enzyme replacement therapy. Methods: A chart review was performed on 2 patients with childhood-onset, symptomatic LALD with persistent dyslipidemia despite appropriate enzyme replacement therapy to identify biological pathways and risk factors for incomplete response to therapy. Results: Two patients with attenuated, symptomatic LALD had resolution of transaminitis on enzyme replacement therapy without concomitant effect on dyslipidemia despite dose escalation and no evidence of antibody response to enzyme. Conclusion: Enzyme replacement therapy does not universally resolve all complications of LALD. Persistent dyslipidemia remains a clinically significant issue, likely related to the complex metabolic pathways implicated in LALD pathogenesis. We discuss the possible mechanistic basis for this unexpected finding and the implications for curative LALD therapy.
MeSH term(s)	Child ; Dyslipidemias/drug therapy ; Enzyme Replacement Therapy ; Humans ; Infant, Newborn ; Triglycerides/therapeutic use ; United States ; Wolman Disease/drug therapy ; Wolman Disease
Chemical Substances	Triglycerides
Language	English
Publishing date	2020-02-24
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-020-1328-6
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Article ; Online: Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Kortbawi, Hannah / Ames, Elizabeth / Pritchard, Amanda / Devine, Patrick / van Ziffle, Jessica / Slavotinek, Anne

American journal of medical genetics. Part A

2022 Volume 188, Issue 8, Page(s) 2479–2484

Abstract: Congenital nicotinamide adenine dinucleotide (NAD) deficiency disorders are associated with pathogenic variants in the genes NADSYN1, HAAO, and KYNU. These disorders overlap with the anomalies present in vertebral, anal, cardiac, tracheoesophageal, ... ...

Abstract	Congenital nicotinamide adenine dinucleotide (NAD) deficiency disorders are associated with pathogenic variants in the genes NADSYN1, HAAO, and KYNU. These disorders overlap with the anomalies present in vertebral, anal, cardiac, tracheoesophageal, radial and renal, and limb anomalies (VATER/VACTERL) association and often result in premature death. Children who survive typically have developmental delays or intellectual disability. Here, we describe two patients with compound heterozygous variants in NADSYN1 who presented with cardiac and vertebral defects overlapping with the VATER/VACTERL association, although the patients did not satisfy criteria for the diagnosis of VATER/VACTERL due to their lack of limb anomalies and significant renal anomalies. One patient survived into childhood with developmental delays and may represent an expansion of the survival data for NADSYN1-associated NAD deficiency disorders. Interestingly, one patient had hypoplastic left heart syndrome (HLHS) and one had an aortic coarctation and transverse hypoplasia of the aortic arch, suggesting that NADSYN1 sequencing should be performed in children presenting with congenital anomalies related to VATER/VACTERL association and with HLHS and aortic arch abnormalities.
MeSH term(s)	Abnormalities, Multiple ; Anal Canal/abnormalities ; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor ; Child ; Esophagus/abnormalities ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Hernia, Diaphragmatic ; Humans ; Kidney/abnormalities ; Limb Deformities, Congenital/genetics ; NAD ; Spine/abnormalities ; Trachea/abnormalities
Chemical Substances	NAD (0U46U6E8UK) ; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor (EC 6.3.5.-) ; NADSYN1 protein, human (EC 6.3.5.-)
Language	English
Publishing date	2022-05-02
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62765
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Article ; Online: Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.

Pritchard, Amanda Barone / Izumi, Kosuke / Payan-Walters, Irma / Yudkoff, Marc / Rand, Elizabeth B / Bhoj, Elizabeth

American journal of medical genetics. Part A

2022 Volume 188, Issue 5, Page(s) 1443–1447

Abstract: Liver transplantation (LT) has been used for many years as a therapeutic option for certain inborn errors of metabolism (IEMs). Here we present one institution's 27 years of experience with LT in IEMs. Our objective is to assess the outcomes of IEM ... ...

Abstract	Liver transplantation (LT) has been used for many years as a therapeutic option for certain inborn errors of metabolism (IEMs). Here we present one institution's 27 years of experience with LT in IEMs. Our objective is to assess the outcomes of IEM patients who have undergone LT, which we hypothesize to be generally successful for prevention of metabolic decompensation. A retrospective chart review was performed on patients with urea cycle defects, organic acidemias, and amino acidopathies who underwent LT at the Children's Hospital of Philadelphia. Thirty-five patients with the following conditions have undergone LT: tyrosinemia (8), methylmalonic acidemia (7), maple syrup urine disease (6), citrullinemia (6), ornithine transcarbamylase deficiency (4), propionic acidemia (2), and argininosuccinate lyase deficiency (2). Average age at transplantation was 3.6 years. Three patients are now deceased. One patient suffered a metabolic stroke posttransplant. No episodes of metabolic decompensation have been noted. Thirty-five patients received LT with generally favorable outcome. None sustained metabolic decompensation posttransplant. As has been reported previously, LT does not ameliorate pre-existing developmental differences or risk to other organ systems. Further research is needed to aid in standardization of care and follow-up, as most patients no longer follow with a geneticist.
MeSH term(s)	Amino Acid Metabolism, Inborn Errors/therapy ; Child ; Hospitals ; Humans ; Liver Transplantation/adverse effects ; Maple Syrup Urine Disease/therapy ; Propionic Acidemia/surgery ; Retrospective Studies
Language	English
Publishing date	2022-01-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62659
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Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

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Article ; Online: Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

Parekh, Bela / Beil, Adelyn / Blevins, Bridget / Jacobson, Adam / Williams, Pamela / Innis, Jeffrey W / Barone Pritchard, Amanda / Prasov, Lev

Genes

2023 Volume 14, Issue 3

Abstract	The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our multidisciplinary team followed by discussions on diagnosis, prognosis, and genetic testing. Testing approaches are specific to each patient and can be targeted (single-gene, gene panel), broad (chromosomal microarray, whole-exome sequencing), or a combination. We hypothesize that this clinic model improves patient outcomes and quality of care. A retrospective chart review of patients in the MOGC from July 2020 to October 2022 revealed that the most common referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with 52% syndromic cases. Within this patient cohort, we saw a 76% uptake for genetic testing, among which 33% received a diagnostic test result. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics.
MeSH term(s)	Humans ; Retrospective Studies ; Genetic Testing ; Eye ; Optic Nerve Diseases ; Microphthalmos
Language	English
Publishing date	2023-03-15
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14030726
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Trainee perspectives of COVID-19 impact on medical genetics education.

Pritchard, Amanda Barone / Sloan-Heggen, Christina / Keegan, Catherine E / Quinonez, Shane C

Genetics in medicine : official journal of the American College of Medical Genetics

2021 Volume 23, Issue 5, Page(s) 956–962

Abstract: Purpose: The SARS-CoV-2 pandemic abruptly altered medical education and clinical care. This work evaluates trainee perspectives of the impact of the pandemic on medical genetics education.: Methods: A Qualtrics survey was sent to physician trainees ... ...

Abstract	Purpose: The SARS-CoV-2 pandemic abruptly altered medical education and clinical care. This work evaluates trainee perspectives of the impact of the pandemic on medical genetics education. Methods: A Qualtrics survey was sent to physician trainees who rotated in genetics before or midpandemic. Questions assessed patient care, didactic education, and competency in multiple domains. Number of clinic visits completed by trainees were collated through review of documentation. Results: Twenty-three rotating residents completed the surveys. Five of the pediatric residents completed the elective during the pandemic. All residents participated in virtual care during the pandemic, and rotating residents reported an improvement in self-assessed competency in multiple domains. Potential weak areas of education midpandemic included dysmorphology and genetic counseling. Conclusion: Residents on a genetics elective can gain crucial skills and knowledge even when the rotation is in a primarily virtual format. Supplemental dysmorphology and genetic counseling education may improve remote educational experiences. Further research across institutions may deepen understanding of the impact of the pandemic on education in genetics.
MeSH term(s)	COVID-19 ; Child ; Education, Medical ; Genetics, Medical ; Humans ; Internship and Residency ; Pandemics ; SARS-CoV-2 ; Surveys and Questionnaires
Language	English
Publishing date	2021-02-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-020-01072-y
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Article: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.

Li, Dong / Strong, Alanna / Hou, Cuiping / Downes, Helen / Pritchard, Amanda Barone / Mazzeo, Pamela / Zackai, Elaine H / Conlin, Laura K / Hakonarson, Hakon

Molecular cytogenetics

2022 Volume 15, Issue 1, Page(s) 33

Abstract: Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions, ... ...

Abstract	Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions, duplications, and structural rearrangements. Here we describe a 5-year-old female with severe developmental delay, dysmorphic features, multi-suture craniosynostosis, and growth failure found to have a complex series of balanced intra- and inter-chromosomal rearrangements involving chromosomes 4, 11, 13, and X. Initial clinical studies were performed by karyotype, chromosomal microarray, and FISH with research-based short-read genome sequencing coupled with sanger sequencing to precisely map her breakpoints to the base pair resolution to understand the molecular basis of her phenotype. Genome analysis revealed two pathogenic deletions at 4p16.1-p15.32 and 4q31.1, accounting for her developmental delay and dysmorphism. We identified over 60 breakpoints, many with blunt ends and limited homology, supporting a role for non-homologous end joining in restructuring and resolution of the seminal chromoplexy event. We propose that the complexity of our patient's genomic rearrangements with a high number of breakpoints causes dysregulation of gene expression by three-dimensional chromatin interactions or topologically associating domains leading to growth failure and craniosynostosis. Our work supports an important role for genome sequencing in understanding the molecular basis of complex chromosomal rearrangements in human disease.
Language	English
Publishing date	2022-08-05
Publishing country	England
Document type	Journal Article
ZDB-ID	2420849-8
ISSN	1755-8166
ISSN	1755-8166
DOI	10.1186/s13039-022-00610-4
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Article: Interstitial 4q Deletion Syndrome Including

Barone Pritchard, Amanda / Ritter, Alyssa / Kearney, Hutton M / Izumi, Kosuke

Molecular syndromology

2019 Volume 10, Issue 6, Page(s) 327–331

Abstract: Interstitial and terminal deletions of chromosome 4q have been described for many years and have variable phenotypes depending on the size of the deletion present. Clinical features can include developmental delay, growth difficulty, digital differences, ...

Abstract	Interstitial and terminal deletions of chromosome 4q have been described for many years and have variable phenotypes depending on the size of the deletion present. Clinical features can include developmental delay, growth difficulty, digital differences, dysmorphic features, and cardiac anomalies. Here, we present an infant with pseudohypoaldosteronism found to have a deletion of 4q31.21q31.23, including
Language	English
Publishing date	2019-12-21
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000505279
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Article ; Online: What not to expect when you're expecting: Unusual cases of placental mosaicism detected on non-invasive prenatal screening.

Pritchard, Amanda Barone / Grand, Katheryn / Hopkins, Maeve / Schindewolf, Erica / Dugoff, Lorraine / Bhoj, Elizabeth

European journal of medical genetics

2020 Volume 63, Issue 6, Page(s) 103895

MeSH term(s)	Adult ; Cell-Free Nucleic Acids/genetics ; Chromosomes/genetics ; Female ; Humans ; Mosaicism/embryology ; Placenta/diagnostic imaging ; Placenta/pathology ; Pregnancy ; Prenatal Diagnosis ; Trophoblasts/cytology ; Trophoblasts/pathology
Chemical Substances	Cell-Free Nucleic Acids
Language	English
Publishing date	2020-02-19
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2020.103895
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