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Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.

Maryam Masoudi, Ali Hosseini Bereshneh, Maryam Rasoulinezhad, Mahmoud Reza Ashrafi, Masoud Garshasbi, Ali Reza Tavasoli,

Al-Raqad syndrome (ARS) is a rare autosomal recessive congenital disorder, associated mainly with developmental delay, and intellectual disability. This syndrome is caused by mutations in DCPS, encoding scavenger mRNA decapping enzyme, which plays a role in the 3-prime-end mRNA decay pathway. Whole-exome sequencing was performed on an offspring of a ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :e61776]

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A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.

Marianna Farnè, Giovanna M Tedesco, Chiara Bedetti, Amedea Mencarelli, Daniela Rogaia, Davide Colavito, Giuseppe Di Cara, Gabriela Stangoni, Stefania Troiani, Alessandra Ferlini, Paolo Prontera,

Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5-year-old female, one of ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Immediate and 6-week after effects of a rehabilitation program for Ehlers-Danlos syndrome hypermobile type patients: A retrospective study.

Adrien Hakimi, Cyrille Bergoin, Patrick Mucci,

Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders with an impaired quality of life in association with fatigue, pain, and kinesiophobia. A retrospective evaluation of the effects of an outpatient rehabilitation program (RP) was performed in Ehlers-Danlos syndrome hypermobile type (hEDS) patients. The 6-minute walk test (6MWT) ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.

Maria C Rossi-Espagnet, Maria L Dentici, Luca Pasquini, Chiara Carducci, Martina Lucignani, Daniela Longo, Emanuele Agolini, Antonio Novelli, Michaela V Gonfiantini, Maria C Digilio, Antonio Napolitano, Andrea Bartuli,

Microcephalic osteodysplastic primordial dwarfism (MOPD) type II is a rare disorder characterized by skeletal dysplasia, severe proportionate short stature, insulin resistance and cerebrovascular abnormalities including cerebral aneurysms and moyamoya disease. MOPD type II is caused by mutations in the pericentrin (PCNT) gene, which encodes a protein involved in centrosomes function. ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Speech and language development in children with 49,XXXXY syndrome.

Carole A Samango-Sprouse, Patricia C Lasutschinkow, Michael McLeod, Grace F Porter, Sherida Powell, Jillyan St Laurent, Teresa Sadeghin, Andrea L Gropman,

49,XXXXY is the rarest X and Y chromosomal variation and is frequently characterized by expressive and receptive language dysfunction, low muscle tonus, and intellectual deficits. Due to the low incidence of this disorder, comprehensive studies analyzing the specific aspects of the speech and language phenotype in these boys have been ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Genotype-phenotype correlation at codon 1740 of SETD2.

Rachel Rabin, Alireza Radmanesh, Ian A Glass, William B Dobyns, Kimberly A Aldinger, Joseph T Shieh, Shelby Romoser, Hannah Bombei, Leah Dowsett, Pamela Trapane, John A Bernat, Janice Baker, Nancy J Mendelsohn, Bernt Popp, Manuela Siekmeyer, Ina Sorge, Francis Hugh Sansbury, Patrick Watts, Nicola C Foulds, Jennifer Burton, George Hoganson, Jane A Hurst, Lara Menzies, Deborah Osio, Larissa Kerecuk, Jan M Cobben, Khadijé Jizi, Sebastien Jacquemont, Stacey A Bélanger, Katharina Löhner, Hermine E Veenstra-Knol, Henny H Lemmink, Jennifer Keller-Ramey, Ingrid M Wentzensen, Sumit Punj, Kirsty McWalter, Jerica Lenberg, Katarzyna A Ellsworth, Kelly Radtke, Schahram Akbarian, John Pappas,

The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal functions. Specifically, SETD2 is associated with trimethylation of histone H3 at lysine 36 (H3K36me3) and methylation of α-tubulin at ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Scott C Smith, Ann Haskins Olney, Angela Beavers, Joanna Spaulding, Marilu Nelson, Shelly Nielsen, Jennifer N Sanmann,

Missense variants in TUBB3 have historically been associated with either congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or malformations of cortical development (MCD). Until a recent report identified two amino acid substitutions in four patients that had clinical features of both disorders, pathogenic variants of TUBB3 were thought ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Farber disease in a patient from China.

Xudong Bao, Mingsheng Ma, Zhenjie Zhang, Yiwen Xu, Zhengqing Qiu,

Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of the ASAH1 gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25-year-old female FD patient with rare osteolytic changes of bilateral hands and toes. Genetic ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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A study on facial features of children with Williams syndrome in China based on three-dimensional anthropometric measurement technology.

Chai Ji, Dan Yao, Ming-Yan Li, Wei-Jun Chen, Sheng-Liang Lin, Zheng-Yan Zhao,

To describe special facial features of children with Williams syndrome in China by using method of three-dimensional craniofacial anthropometry. Using three-dimensional stereo photogrammetric device, 14 craniofacial anthropometric measurements were performed and five indices were calculated in 52 children with Williams syndrome and 208 age and sex matched controls of Han ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech.

Benjamin D Solomon, Anne M Slavotinek,

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Knobloch syndrome in a patient from Chile.

Nicole Nakousi-Capurro, Jonathan Huserman, Silvia Castillo, Luisa Herrera, Pablo Romero, Felipe Pizarro, Cristian Quezada, Francisco Cea,

Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the COL18A1 gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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50 years of Robinow syndrome.

Juliana F Mazzeu, Han G Brunner,

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, Vikas Bhambhani, Amy Calhoun, Julie S Cohen, Matthew A Deardorff, Alberto Fernández-Jaén, Benjamin Kamien, Mahim Jain, Fiona Mckenzie, Mark Mintz, Constance Motter, Kirsten Niles, Alyssa Ritter, Curtis Rogers, Maian Roifman, Sharron Townshend, Catherine Ward-Melver, Samantha A Schrier Vergano,

SMARCA4 encodes a central ATPase subunit in the BRG1-/BRM-associated factors (BAF) or polybromo-associated BAF (PBAF) complex in humans, which is responsible in part for chromatin remodeling and transcriptional regulation. Variants in this and other genes encoding BAF/PBAF complexes have been implicated in Coffin-Siris Syndrome, a multiple congenital anomaly syndrome classically ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Schimke XLID syndrome results from a deletion in BCAP31.

Raymond J Louie, Debra L Collins, Michael J Friez, Cindy Skinner, Charles E Schwartz, Roger E Stevenson,

A family with three affected males and a second family with a single affected male with intellectual disability, microcephaly, ophthalmoplegia, deafness, and Involuntary limb movements were reported by Schimke and Associates in 1984. The affected males with Schimke X-linked intellectual disability (XLID) syndrome (OMIM# 312840) had a similar facial appearance ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Sotos syndrome in two children from India.

Inusha Panigrahi, Chakshu Chaudhry,

Sotos syndrome is one of the overgrowth syndromes, and can present with intellectual disability, behavioral problems and tall stature. In some cases, seizures, pectus deformity, cardiac and renal anomalies may be identified. Here we report two Indian children with Sotos syndrome whose initial presentation was macrocephaly and behavioral problems, respectively. ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants.

Mireya Orozco-Vela, Alfredo Corona-Rivera, Rosa Margarita Cruz-Osorio, Lucero Mendoza-Maldonado, Aurea Márquez-Mora, César Cenobio Barba-Barba, Christian Peña-Padilla, Alejandra Baldomero-López, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera,

Transient abnormal myelopoiesis (TAM) raises the risk for acute myeloid leukemia of Down syndrome (DS) (ML-DS), and both are related to GATA1 pathogenic variants. Here, we analyzed which findings on complete blood count (CBC) are associated with TAM in a cohort of neonates with DS screened for GATA1 pathogenic variants. ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Indian child with novel variant in OFD1 gene.

Inusha Panigrahi, Chirag Ahuja, Chakshu Chaudhry,

Orofaciodigital syndrome (OFD) can have variable phenotype and presents with oral anomalies, facial dysmorphism, and digital malformations like syndactyly, and polydactyly. Other presentations also include renal and cardiac defects, and central nervous system anomalies like hydrocephalus and cerebellar abnormalities. OFD1 is a X-linked dominant form of the syndrome presenting in ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Ocular measurements in fetal alcohol spectrum disorders.

Diego A Gomez, Philip A May, Barbara G Tabachnick, Julie M Hasken, Elizabeth R Lyden, Wendy O Kalberg, H Eugene Hoyme, Melanie A Manning, Margaret P Adam, Luther K Robinson, Kenneth Lyons Jones, David Buckley, Omar A Abdul-Rahman,

Fetal alcohol spectrum disorders (FASD) describe a range of physical, behavioral, and neurologic deficits in individuals exposed to alcohol prenatally. Reduced palpebral fissure length is one of the cardinal facial features of FASD. However, other ocular measurements have not been studied extensively in FASD. Using the Fetal Alcohol Syndrome Epidemiologic ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder.

Carole Samango-Sprouse, Patricia C Lasutschinkow, Francie Mitchell, Grace F Porter, Patricia Hendrie, Sherida Powell, Teresa Sadeghin, Andrea Gropman,

49,XXXXY is a rare chromosomal variation characterized by deficits in motor, language, and cognitive domains. This study reports on the neurological function and dysmorphic features in the largest cohort to date. Seventy-two boys with 49,XXXXY were evaluated on a variety of domains including a neurological examination and neuromotor assessments including ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Rachel Franciskovich, Claudia Soler-Alfonso, Juanita Neira-Fresneda, James R Lupski, Bonnie McCann-Crosby, Lorraine Potocki,

Potocki-Lupski Syndrome (PTLS, MIM 610883), or duplication of chromosome 17p11.2, is a clinically recognizable condition characterized by infantile hypotonia, failure to thrive, developmental delay, intellectual disability, and congenital anomalies. Short stature, classified as greater than two standard deviations below the mean, has not previously been considered a major feature of ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Redeployment: Tales of a pediatric geneticist in a COVID-19 combat zone.

Margo Sheck Breilyn,

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.

Jihai Xu, Jing Wu, Xiaofeng Teng, Libing Cai, Huizong Yuan, Xiaokun Chen, Mu Hu, Xin Wang, Ning Jiang, Hong Chen,

Polydactyly and syndactyly are digital abnormalities in limb-associated birth defects usually caused by genetic disorders. In this study, a five-generation Chinese pedigree was found with triphalangeal thumb polysyndactyly syndrome (TPTPS), showing an autosomal dominant pattern of inheritance. We utilized linkage analysis and whole genome sequencing (WGS) for the genetic diagnosis ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Neurocognitive development and capabilities in boys with 49,XXXXY syndrome.

Andrea L Gropman, Grace F Porter, Patricia C Lasutschinkow, Teresa Sadeghin, Elizabeth S Tipton, Sherida Powell, Carole A Samango-Sprouse,

49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads, and incomplete histories of testosterone replacement therapy. This study is the first comprehensive, international investigation of the neurocognitive aspects of ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, Woei Kang Liew, Koh Cheng Thoon, Terrence Thomas, Nur Ain Binte Ali, Alvin Yu Jin Ng, Sumanty Tohari, Kong Boo Phua, Byrappa Venkatesh, Bruno Reversade, Saumya Shekhar Jamuar,

Shwachman-Diamond syndrome (SDS) is a rare multisystem ribosomal biogenesis disorder characterized by exocrine pancreatic insufficiency, hematologic abnormalities and bony abnormalities. About 90% of patients have biallelic mutations in SBDS gene. Three additional genes-EFL1, DNAJC21 and SRP54 have been reported in association with a SDS phenotype. However, the cause remains unknown ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Introduction: Comprehensive investigation into an international cohort of boys with 49,XXXXY.

Carole A Samango-Sprouse, Andrea L Gropman,

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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