EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report by Hiroyuki Fujii, MD, Yusuke Okuma, MD, PhD, Makoto Hirata, MD, PhD, Yuki Shinno, MD, PhD, Tatsuya Yoshida, MD, PhD, Yasushi Goto, MD, PhD, Hidehito Horinouchi, MD, PhD, Noboru Yamamoto, MD, PhD, Yuichiro Ohe, MD, PhD

“…After the diagnosis of LFS, she underwent genetic counseling and has been screened for the development of a second cancer based on the Toronto protocol.This case highlights the importance of family history interviews and considering the practice of germline genomic testing for optimal management of lung cancer patients with a hereditary cancer syndrome such as LFS. …”
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Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes by Lakshmi Rao Kandukuri, Venkata Padmalatha, Murthy Kanakavalli, Raseswari Turlapati, Mangalipally Swapna, Metuku Vidyadhari, Govindaraghavan Saranaya, Kattera Himaja, Mamata Deenadayal, Bipin Kumar Sethi, Prasun Deb, Nalini Gupta, Baidyanath Chakraborthy, Pratibha Nallari, Lalji Singh

“…This study revealed novel X chromosome abnormalities associated with ovarian defects and these observations would be helpful in genetic counseling and apart from, infertility clinics using the information to decide suitable strategies to help such patients.…”
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Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report by Aya Kawasaki, MD, Hidefumi Tonoki, MD, PhD, Osamu Sasaki, MD, PhD, Yoko Matsushita, MD, PhD, Michiko Watari, MD, PhD, Nobuhiro Takahashi, MD, Satoko Fujieda, MD

“…Once the parents were provided careful genetic counseling, a genetic analysis for TS was performed when the patient was 2 years old that demonstrated a novel pathogenic missense variant: c.1072T>C, p.Trp358Arg in the TSC2 gene with 30% mosaicism. …”
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Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss by Tatiana G. Markova, Natalia N. Alekseeva, Oxana P. Ryzhkova, Olga L. Shatokhina, Anna A. Orlova, Viktoriia V. Zabnenkova, Olga S. Groznova, Olesya V. Sagaydak, Svetlana S. Chibisova, Alexander V. Polyakov, George A. Tavartkiladze

“…In general, the study widened the mutation spectrum of the gene, allowing to carry out medical genetic counseling and to answer the questions about the hearing impairment prognosis for future generations.…”
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Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing by Zhiping Zhang, Jiayao Chen, Lei Zhang, Ruiyang Wei, Zhen Liu, Dunmei Zhao, Xingyu Bi, Lixia Liang, Xueluo Zhang, Dan Su, Xueqing Wu

“…Conclusion Our findings offer valuable information for genetic counseling.…”
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“A quality of heart, of presence, and of really caring”: toward affirmative intersex health communication in Canada by Terese Knoppers, Angelica Voutsinas, Nicole Palmour, Kaleb Saulnier, Kaleb Saulnier, Morgan Holmes, Marilou Charron, Hortense Gallois, Hortense Gallois, Narges Jamali, Narges Jamali, Leslie Ordal, Yann Joly

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RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa by Satoshi Katagiri, Takaaki Hayashi, Masakazu Akahori, Takeshi Itabashi, Jo Nishino, Kazutoshi Yoshitake, Masaaki Furuno, Kazuho Ikeo, Tetsuji Okada, Hiroshi Tsuneoka, Takeshi Iwata

“…Identification of RHO mutations is a very useful tool for predicting disease severity and providing precise genetic counseling.…”
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Frequency and Molecular Characteristics of Mismatch Repair-deficient Status among Multiple Synchronous Colorectal Cancers by Kenichi Chikatani, Noriyasu Chika, Noriko Tanabe, Yoshiko Mori, Okihide Suzuki, Takatoshi Matsuyama, Keiichiro Ishibashi, Hidetaka Eguchi, Yasushi Okazaki, Tatsuro Yamaguchi, Hideyuki Ishida

“…Conclusions: Our data will be useful for genetic counseling in patients with synchronous CRCs suspected of having LS. …”
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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

“…Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources. …”
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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

“…Conclusion Our findings provide conclusive evidence for genetic counseling of corresponding families and expand the mutation spectrum of SD. …”
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Red flags to suspect inborn errors of immunity in patients with autoimmune diseases by Natalia Vélez, Juliette De Ávila, Jaime Cortés, Nelson Barrero, Leosirlay Rojas, Juan Manuel Bello, Consuelo Romero-Sánchez

“…An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling.…”
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Medullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients by Guenda Di Benedetto, Ignazio Barca, Laura De Gregorio, Claudia Scollo, Fiorenza Gianì, Federica Martorana, Marco Russo, Francesco Frasca, Gabriella Pellegriti, Gabriella Pellegriti, Giulia Sapuppo

“…One patient died after 9 years of follow-up at 21 years old (M918T RET+).ConclusionsFrom these data, it is clear to see the importance of genetic counseling and RET screening in all first-degree relatives of patients with proven MEN2. …”
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Diagnosis, treatment, surgical practices and review of the literature in rare coagulation factor deficiencies by Hüseyin Avni Solgun

“…Additionially family screenings and more effective genetic counseling may heal the overall survival and prevent further severe complications. …”
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Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families by Bin Mao, Xiaoling Cai, Na Lin, Yulin Jiang, Na Hao, Yifang Dai, Danhua Guo, Deqin He, Huili Xue, Lingji Chen, Qianqian He, Min Zhang, Meihuan Chen, Hailong Huang, Liangpu Xu

“…Molecular analysis is highly beneficial for the precise diagnosis, genetic counseling and prenatal diagnosis of families suspected of having genetic muscular disorders. …”
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Social vulnerability and genetic service utilization among unaffected BRIDGE trial patients with inherited cancer susceptibility by Jemar R. Bather, Melody S. Goodman, Adrian Harris, Guilherme Del Fiol, Rachel Hess, David W. Wetter, Daniel Chavez-Yenter, Lingzi Zhong, Lauren Kaiser-Jackson, Rachelle Chambers, Richard Bradshaw, Wendy Kohlmann, Sarah Colonna, Whitney Espinel, Rachel Monahan, Saundra S. Buys, Ophira Ginsburg, Kensaku Kawamoto, Kimberly A. Kaphingst, on behalf of the BRIDGE research team

“…We used encounters from the electronic health record (EHR) to measure the uptake of genetic counseling and testing, including dichotomous measures of (1) whether participants initiated pre-test cancer genetic services, (2) completed pre-test cancer genetic services, (3) had genetic testing ordered, and (4) completed genetic testing. …”
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Genomic deletions on 16p11.2 associated with severe obesity in Brazil by Izadora Sthephanie da Silva Assis, Izadora Sthephanie da Silva Assis, Kaio Cezar Rodrigues Salum, Kaio Cezar Rodrigues Salum, Kaio Cezar Rodrigues Salum, Rafaela de Freitas Martins Felício, Lohanna Palhinha, Gabriella de Medeiros Abreu, Gabriella de Medeiros Abreu, Tamara Silva, Fernanda Cristina Carvalho Mattos, Eliane Lopes Rosado, Verônica Marques Zembrzuski, Mario Campos Junior, Clarissa Menezes Maya-Monteiro, Pedro Hernán Cabello, João Regis Ivar Carneiro, Patrícia Torres Bozza, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca

“…These results support the clinical utility of genetic testing to identify patients with the genetic form of obesity who may benefit from specific medical treatment, family genetic counseling, and targeted therapeutic intervention.…”
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Liver Failure with Marked Hyperferritinemia: ‘Ironing Out’ the Diagnosis by Susan E Natsheh, Eve A Roberts, Bo Ngan, Peter Chait, Vicky Lee Ng

“…Clinical recognition and diagnosis of HLH can be difficult but are crucial for appropriate therapy and genetic counselling. Liver transplantation is absolutely contraindicated for patients with HLH but may be the only life-saving treatment modality for patients with perinatal hemochromatosis.…”
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Fatal Cholestatic Hepatitis in an Infant: An Unusual Etiology by Mark R Oliver, Alfredo Pinto, R Brent Scott

“…Recognition of the combination of adenoviral infection with underlying primary immunodeficiency is a prerequisite to the provision of genetic counselling.…”
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Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature by B. Wormald, S. Elorbany, H. Hanson, J. W. Williams, S. Heenan, D. P. J. Barton

“…The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.…”
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Finding of Polydactyly and Syndactyly in an Eight-week Human Embryo. A Case Report by Maria Nelia Martínez Lima, María Aimée Vila Bormey, Yanely Surí Santos

“…The importance of the morphological study of these products is emphasized, which would provide value judgments to genetic counselling in future pregnancies.…”
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