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Article ; Online: Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.

Soares, Marta P / Travessa, André M / Custódio, Sónia / Pereira, Carla / Pinto, Patrícia / Sousa, Ana Berta

Endocrine, metabolic & immune disorders drug targets

2024

Abstract: Introduction: Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pathogenic variants in more than 50 genes. ...

Abstract	Introduction: Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pathogenic variants in more than 50 genes. In 2017, biallelic variants in the MRPS34 gene were shown to cause combined oxidative phosphorylation deficiency type 32 (COPD32) (OMIM#617664); however, only 7 patients have been reported in the literature up to this moment. COPD32 is characterized mainly by a severe Leigh-like syndrome. Methods: Whole-exome sequencing identified a homozygous pathogenic variant in the MRPS34 gene, c.322-10G>A. Only the mother was heterozygous for this variant. SNP-array analysis was performed, which revealed a region of absence of heterozygosity in variant 16q with 9.8Mb, compatible with maternal uniparental disomy. Results/case report: We report the case of an 18-year-old female with unremarkable family history. The pregnancy was complicated by oligohydramnios, and the neonatal period was unremarkable. She evolved with low weight, mild-moderate developmental delay/intellectual disability, and hypogonadotropic hypogonadism. On examination, she had slender habitus, joint laxity, and kyphoscoliosis. The cardiac evaluation was normal, and the head MRI showed bilateral olivary nucleus degeneration that was not confirmed subsequently. Extensive metabolic studies documented only mild lactate and pyruvate elevation, and the chromosomal microarray was normal. Conclusion: We have reported the case of the first patient with COPD32 due to partial maternal uniparental disomy of chromosome 16, being first in Portugal and seventh in the literature. Contrarily to previous patients, who died in the first months of life or survived with severe DD/ID, and had a Leigh-like syndrome, this case is significantly milder, contributing to a better characterization of the phenotypic spectrum. Recurrence risk is unexpectedly low in this instance. This case illustrates the importance of segregation analysis in patients with homozygous recessive mutations.
Language	English
Publishing date	2024-01-12
Publishing country	United Arab Emirates
Document type	Journal Article
ZDB-ID	2228325-0
ISSN	2212-3873 ; 1871-5303
ISSN (online)	2212-3873
ISSN	1871-5303
DOI	10.2174/0118715303283767231120113921
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Article ; Online: New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.

Silva, Raquel Gouveia / Dupont, Juliette / Silva, Eduardo / Sousa, Ana Berta

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

2022 Volume 26, Issue 5, Page(s) 268–270

Abstract: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life ... ...

Abstract	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life with highly variable clinical manifestations. The main features of IDDFBA include borderline-to-severe intellectual disability, behavioral problems, hypotonia, facial dysmorphisms, minor skeletal abnormalities, and recurrent infections. Although eye problems, such as refractive errors, eye misalignment and minor visual changes, have been described in about 48% of patients, a major ocular defect, namely, bilateral optic nerve hypoplasia, has been reported in the literature only once. We report an 8-year-old boy with a novel de novo pathogenic variant in FBXO11 gene (NM_001190274.1: c.1166dup, p.Cys390Metfs∗3) and a complex ophthalmological phenotype, consisting of right microphthalmia, very shallow anterior chamber, and persistent pupillary membrane, right dense nuclear cataract, bilateral optic nerve hypoplasia, and bilateral horizontal manifest nystagmus.
MeSH term(s)	Humans ; Optic Nerve Hypoplasia ; Intellectual Disability/genetics ; Muscle Hypotonia ; Phenotype ; Eye Abnormalities ; Protein-Arginine N-Methyltransferases/genetics ; F-Box Proteins/genetics
Chemical Substances	FBXO11 protein, human (EC 2.1.1.319) ; Protein-Arginine N-Methyltransferases (EC 2.1.1.319) ; F-Box Proteins
Language	English
Publishing date	2022-08-05
Publishing country	United States
Document type	Case Reports
ZDB-ID	1412476-2
ISSN	1528-3933 ; 1091-8531
ISSN (online)	1528-3933
ISSN	1091-8531
DOI	10.1016/j.jaapos.2022.05.008
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Article ; Online: Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion.

Rodrigues, Raquel / Soeiro E Sá, Mariana / Sousa, Ana / Sousa, Ana Berta

Clinical dysmorphology

2022 Volume 32, Issue 2, Page(s) 70–73

MeSH term(s)	Humans ; Haploinsufficiency ; Chromosome Deletion ; Intellectual Disability/genetics ; Repressor Proteins/genetics
Chemical Substances	CNOT2 protein, human ; Repressor Proteins
Language	English
Publishing date	2022-12-27
Publishing country	England
Document type	Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000444
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Article: The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.

Zinterl, Carolina / Costa-Reis, Patrícia / Esteves, Isabel Castro / Marques, José Gonçalo / Sousa, Ana Berta / Fonseca, João Eurico / Oliveira Ramos, Filipa

Journal of multidisciplinary healthcare

2022 Volume 15, Page(s) 999–1010

Abstract: Background: Systemic autoinflammatory diseases (SAID) are characterized by inappropriate activation of the innate immune system and include not only monogenic periodic fever syndromes but also multifactorial conditions. As SAID are rare and represent a ... ...

Abstract	Background: Systemic autoinflammatory diseases (SAID) are characterized by inappropriate activation of the innate immune system and include not only monogenic periodic fever syndromes but also multifactorial conditions. As SAID are rare and represent a diagnostic challenge, a multidisciplinary approach is important to ensure successful diagnosis and adequate follow-up of these patients. Objective: To describe the organization of our multidisciplinary SAID clinic and to characterize our clinical experience, highlighting the benefits of multidisciplinary team management. Methods: Our SAID clinic takes place monthly and is managed by pediatric rheumatologists closely collaborating with pediatricians specialized in infectious diseases and immunodeficiencies and one medical geneticist. Patients' data are systematically incorporated in the Rheumatic Diseases Portuguese Register (Reuma.pt). Biological samples are stored in a biobank. We describe our clinical experience based on SAID patients registered into Reuma.pt/SAID between July 2011 and June 2020. Results: We have registered 176 patients, with a median age of disease onset of 3.1 ± 4.4 years and median age at disease diagnosis of 4.7 ± 4.0 years. Most patients were diagnosed with periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA) (n=133), 20 with undefined SAID (uSAID) and 13 with monogenic SAID, including familial Mediterranean fever (FMF) (n=5), tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (n=1), cryopyrin-associated periodic disease (CAPS) (n=1), and hyperimmunoglobulin D syndrome/mevalonate kinase deficiency (HIDS/MKD) (n=2). A genetic test was performed in 31 patients (18%), and in 26% of these a mutation responsible for the phenotype was found. Thirty-four patients (19%) achieved remission. Conclusion: FMF was the most common monogenic SAID and the percentage of patients with an identified causal mutation was low. A structured electronic clinical record coupled with a biobank and a multidisciplinary approach are crucial to ensure successful diagnosis and adequate follow-up of these patients.
Language	English
Publishing date	2022-05-04
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2453343-9
ISSN	1178-2390
ISSN	1178-2390
DOI	10.2147/JMDH.S351546
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Article ; Online: Anisometropia and asymmetric

Santos, Cristina / Almeida, Andreia / Pinto, Rita / Kaminska, Karolina / Peter, Virginie G / Sousa, Ana-Berta / Rivolta, Carlo / Coutinho-Santos, Luísa

Ophthalmic genetics

2022 Volume 43, Issue 4, Page(s) 576–580

MeSH term(s)	ATP-Binding Cassette Transporters/genetics ; Anisometropia ; Cone-Rod Dystrophies ; Electroretinography ; Humans ; Mutation ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/genetics
Chemical Substances	ABCA4 protein, human ; ATP-Binding Cassette Transporters
Language	English
Publishing date	2022-07-28
Publishing country	England
Document type	Letter
ZDB-ID	1199279-7
ISSN	1744-5094 ; 0167-6784 ; 1381-6810
ISSN (online)	1744-5094
ISSN	0167-6784 ; 1381-6810
DOI	10.1080/13816810.2022.2103834
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Article ; Online: Genetic profile of syndromic retinitis pigmentosa in Portugal.

Cortinhal, Telmo / Santos, Cristina / Vaz-Pereira, Sara / Marta, Ana / Duarte, Lilianne / Miranda, Vitor / Costa, José / Sousa, Ana Berta / Peter, Virginie G / Kaminska, Karolina / Rivolta, Carlo / Carvalho, Ana Luísa / Saraiva, Jorge / Soares, Célia Azevedo / Silva, Rufino / Murta, Joaquim / Santos, Luísa Coutinho / Marques, João Pedro

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

2024

Abstract: Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has ... ...

Abstract	Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal. Methods: Multicenter, retrospective cohort study. Six Portuguese healthcare providers identified patients with a clinical diagnosis of syndromic RP and available genetic testing results. All patients had been previously subjected to a detailed ophthalmologic examination and clinically oriented genetic testing. Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for disease etiology. Results: One hundred and twenty-two patients (53.3% males) from 100 families were included. Usher syndrome was the most frequent diagnosis (62.0%), followed by Bardet-Biedl (19.0%) and Senior-Løken syndromes (7.0%). Deleterious variants were identified in 86/100 families for a diagnostic yield of 86.0% (87.1% for Usher and 94.7% for Bardet-Biedl). A total of 81 genetic variants were identified in 25 different genes, 22 of which are novel. USH2A and MYO7A were responsible for most type II and type I Usher syndrome cases, respectively. BBS1 variants were the cause of Bardet-Biedl syndrome in 52.6% of families. Best-corrected visual acuity (BCVA) records were available at baseline and last visit for 99 patients (198 eyes), with a median follow-up of 62.0 months. The mean BCVA was 56.5 ETDRS letters at baseline (Snellen equivalent ~ 20/80), declining to 44.9 ETDRS letters (Snellen equivalent ~ 20/125) at the last available follow-up (p < 0.001). Conclusion: This is the first multicenter study depicting the genetic profile of syndromic RP in Portugal, thus contributing toward a better understanding of this heterogeneous disease group. Usher and Bardet-Biedl syndromes were found to be the most common types of syndromic RP in this large Portuguese cohort. A high diagnostic yield was obtained, highlighting current genetic testing capabilities in providing a molecular diagnosis to most affected individuals. This has major implications in determining disease-related prognosis and providing targeted genetic counseling for syndromic RP patients in Portugal.
Language	English
Publishing date	2024-01-08
Publishing country	Germany
Document type	Journal Article
ZDB-ID	8435-9
ISSN	1435-702X ; 0721-832X
ISSN (online)	1435-702X
ISSN	0721-832X
DOI	10.1007/s00417-023-06360-2
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Article ; Online: Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.

Travessa, André M / Dias, Patrícia / Santos, Antónia / Custódio, Sónia / Sousa, Ana / Sousa, Ana Berta

Taiwanese journal of obstetrics & gynecology

2020 Volume 59, Issue 2, Page(s) 318–322

Abstract: Objective: To describe the ultrasonographic, pathologic and molecular findings in a fetus with TAR syndrome, and to illustrate the contribution of chromosomal microarray analysis (CMA) to the etiological investigation of fetal upper limb reduction ... ...

Abstract	Objective: To describe the ultrasonographic, pathologic and molecular findings in a fetus with TAR syndrome, and to illustrate the contribution of chromosomal microarray analysis (CMA) to the etiological investigation of fetal upper limb reduction defects. Case report: A 35-year-old woman was referred for Genetic Counseling after pregnancy termination for severe upper limb bilateral phocomelia detected in the second trimester. Fetal autopsy showed severe shortening of the arms and forearms. The fetal skeletal survey confirmed the absence of the radii, ulnae and humeri. CMA revealed an interstitial deletion in 1q21 including the RBM8A gene. Subsequent Sanger sequencing of this gene identified a hypomorphic mutant allele, c.-21G > A, confirming the diagnosis of TAR syndrome. Conclusion: The differential diagnosis of upper limb defects is broad. Identification of their cause is essential for adequate genetic counseling including prognosis and recurrence risk estimation. CMA should be considered in fetuses with upper limb reduction defects, especially when the thumbs are present.
MeSH term(s)	Aborted Fetus/pathology ; Adult ; Congenital Bone Marrow Failure Syndromes/diagnosis ; Congenital Bone Marrow Failure Syndromes/embryology ; Diagnosis, Differential ; Ectromelia/diagnosis ; Ectromelia/embryology ; Ectromelia/genetics ; Female ; Genetic Counseling ; Humans ; Microarray Analysis ; Pregnancy ; Pregnancy Trimester, Second ; Radius/embryology ; Thrombocytopenia/congenital ; Thrombocytopenia/diagnosis ; Thrombocytopenia/embryology ; Upper Extremity Deformities, Congenital/diagnosis ; Upper Extremity Deformities, Congenital/embryology ; Upper Extremity Deformities, Congenital/genetics
Language	English
Publishing date	2020-03-04
Publishing country	China (Republic : 1949- )
Document type	Case Reports
ISSN	1875-6263
ISSN (online)	1875-6263
DOI	10.1016/j.tjog.2020.01.024
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Article ; Online: Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético.

Martins, Rita / Moldovan, Oana / Sousa, Ana Berta / Levy, António / Quintas, Sofia

Acta medica portuguesa

2020 Volume 33, Issue 6, Page(s) 415–424

Abstract: Introduction: Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over ... ...

Title translation	Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis.
Abstract	Introduction: Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm. However, there are no international guidelines regarding the diagnosis of genetic epileptic encephalopathies. We aim to discuss the current knowledge about the genetic architecture of epileptic encephalopathies of childhood. Material and methods: review of the literature about infantile epileptic encephalopathies and the genetic tests currently available. A systematic approach and a diagnostic algorithm to use in clinical practice were proposed. Results: Initially the patient's phenotype should be determined based on the seizure type, electroencephalogram pattern and neuroimaging. Patients with unclear etiology after brain magnetic resonance imaging should undergo an appropriate metabolic investigation to promptly exclude treatable conditions. Further studies should also include other genetic causes, mainly if associated with particular phenotypic features. Chromosomal microarray analysis should be firstly considered, particularly if dysmorphic or polymalformative abnormalities are present. If this is negative and/or there are no physical features, the next step should be next-generation sequencing multigene panels or whole-exome sequencing. Single gene study should only be considered when the patient's phenotype is highly suggestive of a specific syndrome. Conclusion: The revolution of the genetic knowledge about epileptic encephalopathies of childhood has led to a complex diagnostic approach. This new paradigm poses significant implications in genetic counselling, treatment and prognosis.
MeSH term(s)	Algorithms ; Child ; Epilepsy/diagnosis ; Epilepsy/genetics ; Humans
Language	Portuguese
Publishing date	2020-05-31
Publishing country	Portugal
Document type	Journal Article ; Review
ZDB-ID	603078-6
ISSN	1646-0758 ; 0870-399X
ISSN (online)	1646-0758
ISSN	0870-399X
DOI	10.20344/amp.12550
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Article ; Online: The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Peter, Virginie G / Kaminska, Karolina / Santos, Cristina / Quinodoz, Mathieu / Cancellieri, Francesca / Cisarova, Katarina / Pescini Gobert, Rosanna / Rodrigues, Raquel / Custódio, Sónia / Paris, Liliana P / Sousa, Ana Berta / Coutinho Santos, Luisa / Rivolta, Carlo

PNAS nexus

2023 Volume 2, Issue 3, Page(s) pgad043

Abstract: Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as monogenic traits. However, with more than 280 disease genes identified so far, ... ...

Abstract	Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as monogenic traits. However, with more than 280 disease genes identified so far, association of clinical phenotypes with genotypes can be very challenging, and molecular diagnosis is essential for genetic counseling and correct management of the disease. In addition, the prevalence and the assortment of IRD mutations are often population-specific. In this work, we examined 230 families from Portugal, with individuals suffering from a variety of IRD diagnostic classes (270 subjects in total). Overall, we identified 157 unique mutations (34 previously unreported) in 57 distinct genes, with a diagnostic rate of 76%. The IRD mutational landscape was, to some extent, different from those reported in other European populations, including Spanish cohorts. For instance, the
Language	English
Publishing date	2023-02-13
Publishing country	England
Document type	Journal Article
ISSN	2752-6542
ISSN (online)	2752-6542
DOI	10.1093/pnasnexus/pgad043
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Article ; Online: Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Dupont, Juliette / Vieira, José Pedro / Tavares, Ana Lisa Taylor / Conceição, Carla Ribeiro / Khan, Suliman / Bertoli-Avella, Aida Maria / Sousa, Ana Berta

Clinical genetics

2021 Volume 99, Issue 4, Page(s) 588–593

Abstract: Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, ... ...

Abstract	Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio-exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.
MeSH term(s)	Basic Helix-Loop-Helix Transcription Factors/genetics ; Basic Helix-Loop-Helix Transcription Factors/physiology ; Child ; Cochlear Nerve/abnormalities ; Developmental Disabilities/genetics ; Dwarfism/genetics ; Hearing Loss, Sensorineural/genetics ; Humans ; Intellectual Disability/genetics ; Keratoconjunctivitis/genetics ; Male ; Muscle Hypotonia/genetics ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/physiology ; Neurodevelopmental Disorders/genetics ; Trigeminal Nerve/abnormalities
Chemical Substances	Basic Helix-Loop-Helix Transcription Factors ; NEUROG1 protein, human ; Nerve Tissue Proteins
Language	English
Publishing date	2021-01-20
Publishing country	Denmark
Document type	Case Reports ; Journal Article
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13922
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