Mengyuan Liu, Bing Li, Xiaona Wang, Dongxiao Li, Zhenhua Xie, Yuke Li, Yang Gao, Baiyun Chen, Huichun Zhang, Yanli Wang, Chao Gao
OBJECTIVE: The objective of this study was to investigate the pathogenesis and inheritance pattern of a Chinese Han family with hereditary spastic paraplegia and to retrospectively analyze the characteristics of KIF1A gene variants and related clinical manifestations. METHODS: High-throughput whole-exome sequencing was performed on members of a Chinese Han family with a clinical diagnosis of hereditary spastic paraplegia, and the sequencing results were validated by Sanger sequencing...
March 10, 2023: Annals of Human Genetics
Oscar Alonso-Luna, Gabriela E Mercado-Celis, Jorge Melendez-Zajgla, Marta Zapata-Tarres, Elvia Mendoza-Caamal
Childhood cancer is a leading cause of death by disease in children ages 5-14, for which there are no preventive strategies. Due to early-age of diagnosis and short period of exposure to environmental factors, increasing evidence suggests childhood cancer could have strong association with germline alterations in predisposition cancer genes but, their frequency and distribution are largely unknown. Several efforts have been made to develop tools to identify children with increased risk of cancer who may benefit from genetic testing but their validation and application on a large scale is necessary...
March 10, 2023: Annals of Human Genetics
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March 2023: Annals of Human Genetics
Sanaz Mohammadi, Hossein Jafari Khamirani, Maryam Baneshi, Neda Kamal, Jamal Manoocheri, Mahsa Saffar, Mehdi Dianatpour, Seyed Mohammad Bagher Tabei, Seyed Alireza Dastgheib
Introduction Hereditary sensory neuropathy (HSN) describes as a heterogeneous group of peripheral neuropathies. HSN type 1 (HSN1) is one subtype characterized by distal sensory impairment that occurs in the form of numbness, tingling, or pain. To date, only two variants in the atlastin GTPase 3 (ATL3) gene have been identified that result in hereditary sensory neuropathy type 1F (HSN1F) with autosomal dominantinheritance. Methods We sudied and examined who present with sensory disturbances and muscle weakness in their lower limb...
March 1, 2023: Annals of Human Genetics
Pinyaphat Khamphikham, Oravee Hanmanoviriya, Somsakul Pop Wongpalee, Thongperm Munkongdee, Kittiphong Paiboonsukwong, Yupin Jopang, Chaowanee Wangchauy, Charan Sancharernsook, Nathawat Jinorose, Sakorn Pornprasert
INTRODUCTION: The α0 -thalassemia 44.6 kb or Chiang Rai (--CR ) deletion has been reported in northern Thailand and is capable of causing hemoglobin (Hb) H disease and a lethal α-thalassemia genotype, Hb Bart's hydrops fetalis, in this region. However, there are no current data regarding the frequency of --CR nationwide due to a lack of effective diagnostic assay. Therefore, this study aimed to develop a reliable platform for simultaneous genotyping of --CR and two common α0 -thalassemias in Thailand (--SEA and --THAI ) and investigate the frequency of --CR across Thailand...
January 29, 2023: Annals of Human Genetics
Massimo Mezzavilla, Massimiliano Cocca
BACKGROUND: How much are natural selection and gene characteristics, such as the number of protein-protein interactions (PPIs), tissue specificity (𝞽), and expression level, connected? METHODS: In order to investigate these relationships, we combined different metrics linked to genetic constraints and analyzed their distribution concerning PPIs, 𝞽 and expression levels. RESULTS: We discovered a positive correlation between genetic constraints, PPIs, and expression levels in all tissues...
January 27, 2023: Annals of Human Genetics
Angela M Zigarelli, Hanna M Venera, Brody A Receveur, Jack M Wolf, Jason Westra, Nathan L Tintle
As biobanks become increasingly popular, access to genotypic and phenotypic data continues to increase in the form of precomputed summary statistics (PCSS). Widespread accessibility of PCSS alleviates many issues related to biobank data, including that of data privacy and confidentiality, as well as high computational costs. However, questions remain about how to maximally leverage PCSS for downstream statistical analyses. Here we present a novel method for testing the association of an arbitrary number of single nucleotide variants (SNVs) on a linear combination of phenotypes after adjusting for covariates for common multimarker tests (e...
January 22, 2023: Annals of Human Genetics
Büşranur Çavdarlı, Özlem Yayici Köken, Saide Betül Arslan Satılmış, Şule Bilen, Didem Ardıçlı, Ahmet Cevdet Ceylan, Cavidan Nur Semerci Gündüz, Haluk Topaloğlu
Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole-exome sequencing (WES) has been on the rise to become the usual method of choice for molecular diagnosis in patients presenting with muscular dystrophy or congenital or metabolic myopathy phenotype. Here, we used a panel with 47 genes including not only muscular dystrophy but also myopathy-associated genes that had been used as a first-tier approach. A total of 146 patients who were referred to our clinic with the prediagnosis of muscular dystrophy and/or myopathy were included in the study...
December 27, 2022: Annals of Human Genetics
Die Hu, Shuyue Chen, Hong Zhang
It is of great interest to detect missing heritability for human complex traits. Additive genetic effects (ADD), maternal genetic effects (MGE), and parent-of-origin effects (POE) play important roles in genetic mechanisms. Methods have been developed in the literature to analyze heritabilities due to ADD, POE, and MGE separately but not simultaneously. In this paper, a new model termed APM is proposed based on mother-child duos genetic data, which orthogonally decomposes heritabilities due to ADD, POE, and MGE...
December 23, 2022: Annals of Human Genetics
Yanjiao Li, Qi Liu, Qiuye Ma, Zhaoxia Ma, Juan Chen, An Yu, Changguo Ma, Lihua Qiu, Hong Shi, Hongsuo Liang, Min Hu
BACKGROUND: Primary osteoporosis is a systemic skeletal disease characterized by reduced bone mass and vulnerability to fractures. The genetics of osteoporosis in the Chinese population remain unclear, which hinders the prevention and treatment of osteoporosis in China. This study aimed to explore the susceptibility genes and the roles played by their variants in osteoporosis. METHODS: Blood samples were collected from 45 osteoporosis patients and 30 healthy individuals, and genome-wide association study was performed on array data...
December 8, 2022: Annals of Human Genetics
Naci Cine, Cansu Ugurtas, Merve Gokbayrak, Duygu Aydin, Gulhan Demir, Seda Kuru, Deniz Sunnetci-Akkoyunlu, Seda Eren-Keskin, Turgay Simsek, Devrim Cabuk, Maksut Gorkem Aksu, Nuh Zafer Canturk, Hakan Savli
INTRODUCTION: Breast cancer is the most prevalent malignancy in women worldwide. Although pathogenic variants in the BRCA1/2 genes are responsible for the majority of hereditary breast cancer cases, a substantial proportion of patients are negative for pathogenic variations in these genes. In cancers, the signal transduction pathways of the cell are usually affected first. Therefore, this study aimed to detect and classified genetic variations in non-BRCA signaling genes and investigate the underlying genetic causes of susceptibility to breast cancer...
December 7, 2022: Annals of Human Genetics
Bin Li, Libing Xiao, Danhong Ye, Siyi Zhong, Qiaoyu Yan
INTRODUCTION: After years of development, digital replantation has become a mature treatment. METHODS: Although the NOTUM gene has been shown to be involved in the formation of vertebrate nerves, whether it contributes to the osteogenic mechanism of severed finger replantation remains unknown. In response to this, this study investigates the specific details of NOTUM involvement in replantation of severed fingers. RESULTS: The experimental subjects are patients with replantation of severed fingers from Shulan International Medical College of Shulan (Hangzhou) Hospital affiliated to Zhejiang Shuren University...
December 5, 2022: Annals of Human Genetics
Sami Zaqout, Atef Mannaa, Oliver Klein, Angelika Krajewski, Joachim Klose, Lena Luise-Becker, Ahmed Elsabagh, Khaled Ferih, Nadine Kraemer, Ethiraj Ravindran, Konstantin Makridis, Angela M Kaindl
BACKGROUND/AIM: Autosomal recessive primary microcephaly (MCPH) is a rare and genetically heterogeneous group of disorders characterized by intellectual disability and microcephaly at birth, classically without further organ involvement. MCPH3 is caused by biallelic variants in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2. In the corresponding Cdk5rap2 mutant or Hertwig's anemia mouse model, congenital microcephaly as well as defects in the hematopoietic system, germ cells and eyes have been reported...
November 29, 2022: Annals of Human Genetics
Qiao-Miao Zhou, Fan Jiang, Jing Xu, Dan Lin, Ren-Liang Huang, Jian-Ying Zhou, Yan-Xia Qu, Dong-Zhi Li
INTRODUCTION: The α-globin fusion gene between the HBA2 and HBAP1 genes becomes clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combining with α0 -thalassemia (α0 -thal). Due to its uncommon rearrangement in the α gene cluster without dosage changes, this fusion gene is undetectable by common molecular testing approaches used for α-thal diagnosis. METHODS: In this study, we used the single-molecule real-time (SMRT) sequencing technique to detect this fusion gene in 23 carriers identified by next-generation sequencing (NGS) among 16,504 screened individuals...
November 1, 2022: Annals of Human Genetics
Nzar A A Shwan, Eric C Moise, Paula E Necsoiu, Amy J Farr, Daniel P Gale, Jonathan Barratt, John A L Armour
BACKGROUND: Immunoglobulin A (IgA) nephropathy is a disorder of the immune system affecting kidney function, and genome-wide association studies (GWAS) have defined numerous loci with associated variation, all implicating components of innate or adaptive immunity. Among these, single nucleotide polymorphisms (SNPs) in a region including the multiallelic copy number variation (CNV) of DEFA1A3 are associated with IgA nephropathy in both European and Asian populations. At present, the precise factors underlying the observed associations at DEFA1A3 have not been defined, although the key alleles differ between Asian and European populations, and multiple independent factors may be involved even within a single population...
October 10, 2022: Annals of Human Genetics
Asma-Lamia Boumehdi, Farid Cherbal, Feriel Khider, Mohammed Oukkal, Hassen Mahfouf, Ferhat Zebboudj, Mustapha Maaoui
Colorectal cancer is the second leading cause of cancer-related deaths in women and men in Algeria. Lynch syndrome (LS) is an autosomal dominant disease caused by heterozygous germline pathogenic variants in mismatch repair genes (MMR) and frequently predisposes to colorectal cancer. However, data about MMR germline pathogenic variants in Algerian patients are limited. This first nationwide study aims to describe clinicopathologic features and germline variants in MMR genes in Algerian families with suspected LS...
September 8, 2022: Annals of Human Genetics
Navneesh Yadav, Laxmi Kirola, Thenral S Geetha, Kirti Mittal, Jayarama Kadandale, Yuval Yogev, Ohad S Birk, Neerja Gupta, Prahlad Balakrishnan, Manisha Jana, Meena Gupta, Madhulika Kabra, Bittianda Kuttapa Thelma
Primary microcephaly and Seckel syndrome are rare genetically and clinically heterogenous brain development disorders. Several exonic/splicing mutations are reported for these disorders to date, but ∼40% of all cases remain unexplained. We aimed to uncover the genetic correlate(s) in a family of multiple siblings with microcephaly. A novel homozygous intronic variant (NC_000013.10:g.25459823T>C) in CENPJ (13q12) segregating with all four affected male siblings was identified by exome sequencing and validated by targeted linkage approach (logarithm of the odds score 1...
September 2022: Annals of Human Genetics
José Francisco Zambrano-Zaragoza, Alejandro Vázquez-Reyes, Ma de Jesús Durán-Avelar, Jorge Gutiérrez-Franco, Norberto Vibanco-Pérez, Juan Manuel Agraz-Cibrián, Horacio Pérez-Cambero, Miriam Fabiola Ayón-Pérez
AIM: Nonalcoholic fatty liver disease (NAFLD) is a complex metabolic condition in which both lifestyle and genetic factors have a pathogenic role. The LEP gene encodes leptin, which regulates appetite, body weight, and several metabolic functions. Proopiomelanocortin (POMC), regulates food intake and energy balance. The aim of the study was to determine partial or complete deletions of genes associated with obesity in patients diagnosed with NAFLD. MATERIAL AND METHODS: Blood samples and DNA from 43 individuals diagnosed with NAFLD by ultrasonographic technique (Fibroscan) were obtained...
September 2022: Annals of Human Genetics
Katherine Alexis Markel, David Curtis
BACKGROUND: A number of genes have been implicated in rare familial syndromes which have migraine as part of their phenotype but these genes have not previously been implicated in the common form of migraine. METHODS: Among exome-sequenced participants in the UK Biobank, we identified 7194 migraine cases with the remaining 193,433 participants classified as controls. We investigated rare variants in 10 genes previously reported to be implicated in conditions with migraine as a prominent part of the phenotype and carried out gene- and variant-based tests for association...
August 31, 2022: Annals of Human Genetics
Shabir Hussain, Shoaib Nawaz, Hammal Khan, Anushree Acharya, Isabelle Schrauwen, Wasim Ahmad, Suzanne M Leal
Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures...
August 30, 2022: Annals of Human Genetics
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