Journals American Journal of Medical Ge...

American Journal of Medical Genetics. Part A
Kwang Yang Lee, Ronald Bremner, Jane Hartley, Sue Protheroe, Wolfram Haller, Tracey Johnson, Lisa Whyte
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usually leading to congenital diarrhea as part of a multisystem disease. Here, we report on the natural history of the disease for the largest UK cohort of patients with THES from 1996 to 2020. We systematically reviewed the clinical records and pathological specimens of patients diagnosed with THES managed in a single tertiary pediatric gastroenterology unit. Between 1996 and 2020, 13 patients (7 female and 6 male) were diagnosed with THES either by mutation analysis or by clinical phenotype...
September 27, 2023: American Journal of Medical Genetics. Part A
Maria Letizia Minniti, Silvia Kalantari, Ludovica Pasca, Samantha Bruno, Sebastiano Arceri, Elisa Novello, Elisa Giorgio, Vittoria Rizzo, Renato Borgatti, Enza Maria Valente, Antonio Pisani, Simona Orcesi, Fabio Sirchia
Brunner syndrome is a recessive X-linked disorder caused by pathogenic variants in the monoamine oxidase A gene (MAOA). It is characterized by distinctive aggressive behavior, mild intellectual disability, sleep disturbances, and typical biochemical alterations deriving from the impaired monoamine metabolism. We herein describe a 5-year-old boy with developmental delay, autistic features, and myoclonic epilepsy, and his mother, who had mild intellectual disability and recurrent episodes of palpitations, headache, abdominal pain, and abdominal bloating...
September 26, 2023: American Journal of Medical Genetics. Part A
Dorothea Siebold, Jessica Denton, Anna C E Hurst, Irene Moss, Bruce Korf
Previous studies have explored patient experiences before being seen or at the beginning of their evaluation by undiagnosed diseases programs. This study provides additional insight into experiences after participation through in-depth, qualitative evaluation, allowing for reflection of current practice and patient/parent needs. Semi-structured interviews were conducted with patients and parents of patients seen at the University of Alabama at Birmingham (UAB)'s unique, clinically focused Undiagnosed Diseases Program (UDP)...
September 26, 2023: American Journal of Medical Genetics. Part A
Rasha M Elhossini, Inas M Sayed, Usama Saad Hellal, Sarah A M Mahmoud, Mona S Aglan, Nehal F Hassib, Mohamed S Abdel-Hamid
Abnormal hyperpolarization of the KCNK4 gene, expressed in the nervous system, brain, and periodontal ligament fibroblasts, leads to impaired neurotransmitter sensitivity, cardiac arrhythmias, and endocrine dysfunction, as well as, progressive cell proliferation. De novo gain of function variants in the KCNK4 gene were reported to cause a recognizable syndrome characterized by facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth (FHEIG, OMIM# 618381). FHEIG is extremely rare with only three reported cases in the literature...
September 26, 2023: American Journal of Medical Genetics. Part A
Ekaterina Keifer, Richard L Berg, Jesse G Richardson, Robert M Haws
This study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet-Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet-Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early adaptive skills using the Adaptive Behavior Assessment System (ABAS-II 0-5) completed by caregivers of children with BBS aged from 0 to 5...
September 25, 2023: American Journal of Medical Genetics. Part A
Vasco Sousa Abreu, José Sá Silva, Liliana Igreja, Maria João Malaquias, Catarina Mendes Pinto
The well-known eye-of-the-tiger sign features bilateral and symmetrical changes in the globus pallidus, with a central area of high signal and peripheral low signal on T2-weighted MRI. Although formally considered pathognomonic of pantothenate kinase-associated neurodegeneration (PKAN), there are other neurodegenerative or genetic diseases showing similar findings. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset ataxia, that was recently associated with biallelic AAGGG repeat expansion in the RFC1 gene...
September 25, 2023: American Journal of Medical Genetics. Part A
Sujal Manohar, Yoel Gofin, Haley Streff, Liesbeth Vossaert, Pamela Camacho, Chaya N Murali
Thrombocytopenia can be inherited or acquired from a variety of causes. While hereditary causes of thrombocytopenia are rare, several genes have been associated with the condition. In this report, we describe an 18-year-old man and his mother, both of whom have congenital thrombocytopenia. Exome sequencing in the man revealed a 1006 kb maternally inherited deletion in the 10p12.1 region (arr[GRCh37] 10p12.1(27378928_28384564)x1) of uncertain clinical significance. This deletion in the THC2 locus includes genes ANKRD26, known to be involved in normal megakaryocyte differentiation, and MASTL, which some studies suggest is linked to autosomal dominant thrombocytopenia...
September 25, 2023: American Journal of Medical Genetics. Part A
Scott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, Paul J Benke, Lisa Emrick, Kristen Fisher, Kimberly M Houck, Hongzheng Dai, Maria J Guillen Sacoto, William Craigen, Kimberly Glaser, David R Murdock, Luis Rohena, Karin E M Diderich, Hennie T Bruggenwirth, Brendan Lee, Carlos Bacino, Lindsay C Burrage, Jill A Rosenfeld
The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47...
September 25, 2023: American Journal of Medical Genetics. Part A
Knut Brockmann, Silke Kaulfuß
No abstract text is available yet for this article.
September 25, 2023: American Journal of Medical Genetics. Part A
Pierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, Mathilde Nizon, Benjamin Durand, Salima El Chehadeh, David Geneviève, Valentin Ruault, Mélanie Fradin, Laurent Pasquier, Julien Thévenon, Bruno Delobel, Lydie Burglen, Alexandra Afenjar, Laurence Faivre, Christine Francannet, Anne-Marie Guerrot, Alice Goldenberg, Sandra Mercier, Delphine Héron, Daphné Lehalle, Cyril Mignot, Isabelle Marey, Perrine Charles, Sébastien Moutton, Stéphane Bézieau, Allan Bayat, Amélie Piton, Marjolaine Willems, Marie Vincent
DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs...
September 22, 2023: American Journal of Medical Genetics. Part A
Heng Wang, Gechong Ruan, Shan Yang, Hui Li, Zixi Sun, Bowen Tian, Pengguang Yan, Yue Li, Hong Yang, Yong Zhong, Jiaming Qian
No abstract text is available yet for this article.
September 20, 2023: American Journal of Medical Genetics. Part A
Josef Finsterer
No abstract text is available yet for this article.
September 20, 2023: American Journal of Medical Genetics. Part A
Alon Peled, Ofer Sarig, Janan Mohamad, Marina Eskin-Schwartz, Dan Vodo, Ron Bochner, Natalya Malchin, Ofer Isakov, Noam Shomron, Gilad Fainberg, Marta Bertolini, Ralf Paus, Eli Sprecher
Frontonasal dysplasia (FND) refers to a group of rare developmental disorders characterized by abnormal morphology of the craniofacial region. We studied a family manifesting with clinical features typical for FND2 including neurobehavioral abnormalities, hypotrichosis, hypodontia, and facial dysmorphism. Whole-exome sequencing analysis identified a novel heterozygous frameshift insertion in ALX4 (c.985_986insGTGC, p.Pro329Argfs*115), encoding aristaless homeobox 4. This and a previously reported dominant FND2-causing variant are predicted to result in the formation of a similar abnormally elongated protein tail domain...
September 19, 2023: American Journal of Medical Genetics. Part A
Dale Cameron Wright, Maria Lourdes Baluyot, Johanna Carmichael, Artur Darmanian, Ngaire Jose, Con Ngo, Luke St Heaps, Amber Yendle, Katherine Holman, Sylvia Ziso, Feroza Khan, Anne Masi, Natalie Silove, Valsa Eapen
Chromosomal microarray analysis (CMA) is typically performed for investigation of autism using blood DNA. However, blood collection poses significant challenges for autistic children with repetitive behaviors and sensory and communication issues, often necessitating physical restraint or sedation. Noninvasive saliva collection offers an alternative, however, no published studies to date have evaluated saliva DNA for CMA in autism. Furthermore, previous reports suggest that saliva is suboptimal for detecting copy number variation...
September 15, 2023: American Journal of Medical Genetics. Part A
Martina Caiazza, Alberto Budillon, Emanuele Monda, Giustina Aruta, Augusto Esposito, Francesca Del Vecchio Blanco, Giulio Piluso, Vincenzo Nigro, Gioacchino Scarano, Giuseppe Limongelli
Aymé-Gripp Syndrome (AGS) is an ultra-rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in MAF have been described to date. A significant effort is then required to expand the genotypic and phenotypic spectrum of this condition. In this paper, we report the peculiar case of a 6-year-old girl carrying a de novo missense pathogenic variant in MAF, being the first case reported to show a milder phenotype with no cataracts and deafness displayed...
September 15, 2023: American Journal of Medical Genetics. Part A
S Deepak Amalnath, Jothivanan, Junko Oshima, Jillian G Buchan, Sarah Paolucci
Woodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 gene. Most of the patients have been reported from Greater Middle Eastern countries. We report a 38 male from southern India who presented with syncope and massive hemoptysis due to ruptured bronchopulmonary collaterals. He also had alopecia, cataracts, recently diagnosed diabetes and hypogonadism. Whole exome sequencing showed a novel homozygous truncating variant in the DCAF17 gene...
September 14, 2023: American Journal of Medical Genetics. Part A
Bede N Nriagu, Lydia S Williams, Niambi Brewer, Lea F Surrey, Abhay S Srinivasan, Dong Li, Allison Britt, James Treat, T Blaine Crowley, Nora O'Connor, Arupa Ganguly, David Low, Maria Queenan, Theodore G Drivas, Elaine H Zackai, Denise M Adams, Hakon Hakonarson, Kristen M Snyder, Sarah E Sheppard
Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized...
September 13, 2023: American Journal of Medical Genetics. Part A
Akari Takai, Masaaki Yamagishi, Kazuyuki Ikeda, Atsuya Sugimoto, Eisuke Ichise, Yoshinobu Maeda, Satoshi Teramukai, Tatsuji Hasegawa, Shinichiro Oda, Tomoko Iehara
Congenital heart disease (CHD) is common among patients with trisomy 18 (T18), but cardiac surgery has been rarely indicated for T18 patients due to their short life span. Although the therapeutic effects of aggressive interventions were recently demonstrated for T18 patients, the subjects and factors examined varied, resulting in inconsistent findings. Therefore, the effects of cardiac surgery for T18 remain unclear. We herein investigated the outcomes of cardiac palliative surgery for CHD with increased pulmonary blood flow in T18 patients...
September 12, 2023: American Journal of Medical Genetics. Part A
Sahar Tulbah, Nadiah Alruwaili, Amal Alhashem, Arwa Aljohany, Faten Alhadeq, Dimpna C Albert Brotons, Abdullah Alwadai, Zuhair N Al-Hassnan
Childhood-onset cardiomyopathy is a genetically heterogeneous group of conditions with several genes implicated. Recently, biallelic loss-of-function variants in PPP1R13L have been reported in association with a syndromic form of dilated cardiomyopathy (DCM). In addition, affected children manifest skin and hair abnormalities, cleft lip and palate (CLP), and eye findings. Here, we delineate the condition further by describing the phenotype associated with a homozygous frameshift variant (p.Arg330 ProfsTer76) in PPP1R13L detected in two sibships in a consanguineous family with six affected children...
September 12, 2023: American Journal of Medical Genetics. Part A
E Viora-Dupont, A Denommé-Pichon, M Chevarin, O Patat, M Willems, N Bourgon, A Bruel, M Aubert-Mucca, M Galinier, R Itier, S Decramer, A Piton, B Gerard, C Billon, X Jeunemaitre, Y Duffourd, P Callier, C Thauvin, C Philippe, L Faivre, J Albuisson, A Vitobello
Grange syndrome (GRNG-MIM#135580) is a rare recessive disorder associating variable features including diffuse vascular stenosis, brachysyndactyly, osteopenia with increased bone fragility, cardiac malformations, and variable developmental delay. Since its first description in 1998, only 15 individuals from 10 families have been reported, carrying homozygous or compound heterozygous frameshift or nonsense variants in YY1AP1. In a patient with cutaneous and bone syndactyly and a hemorrhagic stroke at the age of 16 months, consistent with a clinical diagnosis of GRNG, we performed exome sequencing after negative array-CGH and congenital limb malformation panel results...
September 12, 2023: American Journal of Medical Genetics. Part A
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.