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Autosomal recessive

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https://www.readbyqxmd.com/read/29141249/%C3%AE-catenin-cooperates-with-creb-binding-protein-to-promote-the-growth-of-tumor-cells
#1
Wendan Yu, Liren Li, Fufu Zheng, Wenjing Yang, Shilei Zhao, Chunfang Tian, Wenwen Yin, Yiming Chen, Wei Guo, Lijuan Zou, Wuguo Deng
BACKGROUND/AIMS: β-catenin is an integral component of the canonical Wnt signaling pathway, and its mutations are an autosomal recessive cause of colorectal cancer (CRC), medulloblastoma (MDB), and ovarian cancer. Nevertheless, little is known about its function in lung cancers. METHODS: We first knocked down β-catenin by siRNA to investigate its effects on lung cancer cell proliferation, migration and apoptosis. Then we verified the interaction between β-catenin and CREB binding protein (CBP) by immunofluoresence and co-immunoprecipition assays...
November 15, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#2
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29140387/full-mouth-rehabilitation-with-calvarium-bone-grafts-and-dental-implants-for-a-papillon-lef%C3%A3-vre-syndrome-patient-case-report
#3
Bassam M Kinaia, Kristyn Hope, Ahmed Zuhaili, Jean Francois Tulasne
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#4
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138120/recessive-mutation-in-tetraspanin-cd151-causes-kindler-syndrome-like-epidermolysis-bullosa-with-multi-systemic-manifestations-including-nephropathy
#5
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Hamid Reza Mahmoudi, Andrew Touati, Maryam Abiri, Abdol-Mohammad Kajbafzadeh, Sophia Aristodemou, Lu Liu, John A McGrath, Adam Ertel, Eric Londin, Ariana Kariminejad, Sirous Zeinali, Paolo Fortina, Jouni Uitto
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanen CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. In one family, a homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) at the exon 5/intron 5 border was identified, and RT-PCR and whole transcriptome analysis by RNA-seq confirmed deletion of the entire exon 5 encoding 25 amino acids...
November 11, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29138090/novel-de-novo-dysferlin-gene-mutations-in-a-patient-with-miyoshi-myopathy
#6
Yi-Ying Hu, Ya-Jun Lian, Hong-Liang Xu, Ya-Ke Zheng, Chen-Fei Li, Ji-Wei Zhang, Shu-Ping Yan
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF), a 150-kb gene on chromosome 2p13 that contains 55 coding exons. Many patients with MM harbour mutations in the DYSF gene, and most of these mutations are inherited from the patients' parents. Recently, we encountered novel, de novo mutations in the DYSF gene in a patient with MM. DYSF gene analysis was performed by targeted next-generation sequencing, and we found that the patient had compound heterozygous mutations, including a de novo mutation (c...
November 11, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29137918/spinobulbar-muscular-atrophy-combined-with-atypical-hereditary-neuropathy-with-liability-to-pressure-palsy
#7
Kyomin Choi, So Hyun Ahn, Seol-Hee Baek, Jun-Soon Kim, Seok-Jin Choi, Je-Young Shin, Sung-Min Kim, Yoon-Ho Hong, Jung-Joon Sung
Spinobulbar muscular atrophy (SBMA) is an X-linked recessive disease, presenting motor weakness and wasting of facial, bulbar and limb muscles. Hereditary neuropathy with liability to pressure palsy (HNPP) is autosomal dominant disorder characterized by recurrent neuropathies at common entrapment sites. We report a case of co-existence of SBMA and atypical HNPP with genetic confirmation of CAG expansion in the androgen receptor (AR) gene and deletion of the peripheral myelin protein 22 (PMP22) gene. A 62-year-old man presented with progressive muscle weakness, fasciculations in upper and lower limbs and dysesthesia predominantly in the distal regions...
November 11, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29137650/recessive-vars2-mutation-underlies-a-novel-syndrome-with-epilepsy-mental-retardation-short-stature-growth-hormone-deficiency-and-hypogonadism
#8
Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F Meyer, Stefan T Arold, Dorota Monies
BACKGROUND: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency...
November 14, 2017: Human Genomics
https://www.readbyqxmd.com/read/29137068/carnitine-acylcarnitine-translocase-deficiency-with-c-199-10-t-g-and-novel-c-1a-g-mutation-two-case-reports-and-brief-literature-review
#9
Hui-Ming Yan, Hao Hu, Aisha Ahmed, Bing-Bing Feng, Jing Liu, Zheng-Jun Jia, Hua Wang
RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound heterozygote with c.199-10T>G and a novel c.1A>G mutation in the SLC25A20 gene has never been described...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136277/homozygous-xylt2-variants-as-a-cause-of-spondyloocular-syndrome
#10
M Umair, G Eckstein, G Rudolph, T Strom, E Graf, D Hendig, J Hoover, J Alanay, T Meitinger, H Schmidt, W Ahmad
Spondyloocular syndrome (SOS) is a rare autosomal recessive skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the XYLT2 gene with pleiotropic effects in multiple organs including retina, heart muscle, inner ear, cartilage, and bone. The XYLT2 gene encodes xylosyltransferase 2, which catalyzes the transfer of xylose (monosaccharide) to the core protein of proteoglycans (PG) leading to initiating the process of proteoglycan assembly. SOS was originally characterized in two families A and B of Iraqi and Turkish origin, respectively...
November 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#11
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29131652/novel-homozygous-lrp5-mutations-in-mexican-patients-with-osteoporosis-pseudoglioma-syndrome
#12
Mirena C Astiazarán, María Cervantes-Sodi, Erick Rebolledo-Enríquez, Oscar Chacón-Camacho, Vanessa Villegas, Juan Carlos Zenteno
AIMS: Osteoporosis-pseudoglioma syndrome (OPPG) is an uncommon autosomal recessive disorder characterized by the rare association of early-onset osteoporosis and severe ocular abnormalities such as persistent fetal vasculature and microphthalmia. Biallelic mutations in the low-density lipoprotein receptor-related protein-5 gene (LRP5) have been associated with OPPG. We present clinical and genetic data of three Mexican OPPG patients, a pair of sibs, and a sporadic case. MATERIALS AND METHODS: Three patients underwent clinical examination, including a complete ophthalmic evaluation...
November 13, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29129155/transgenerational-inheritance-of-familial-lipomyelomeningocele
#13
Thomas Larrew, Ramin Eskandari, Kenton R Holden, Amy Chen, Catherine J Spellicy, Julie R Jones, Jennifer A Lee, Michael J Lyons
Lipomyelomeningocele is a type of neural tube defect characterized by lipomatous tissue causing a defect in the vertebrae, infiltrating the dura, and tethering the spinal cord. Despite significant neurologic consequences, the underlying etiology remains poorly understood. We present a father and son with remarkably similar presentations of lipomyelomeningocele. Genetic testing did not reveal an underlying cause but whole exome sequencing identified variants in the ARHGAP29 and RADIL genes in the proband and his affected father...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29128155/motor-neuron-disease-in-inherited-neurometabolic-disorders
#14
REVIEW
P Victor Sgobbi de Souza, T Bortholin, F George Monteiro Naylor, M Antônio Troccoli Chieia, W Bocca Vieira de Rezende Pinto, A Souza Bulle Oliveira
Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases...
November 8, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/29126234/bardet-biedl-syndrome-8-bbs8-protein-is-crucial-for-the-development-of-outer-segments-in-photoreceptor-neurons
#15
Tanya L Dilan, Ratnesh K Singh, Thamaraiselvi Saravanan, Abigail Moye, Andrew F X Goldberg, Peter Stoilov, Visvanathan Ramamurthy
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by developmental abnormalities and vision loss. To date, mutations in 21 genes have been linked to BBS. The products of eight of these BBS genes form a stable octameric complex termed the BBSome. Mutations in BBS8, a component of the BBSome, cause early vision loss, but the role of BBS8 in supporting vision is not known. To understand the mechanisms by which BBS8 supports rod and cone photoreceptor function, we generated animal models lacking BBS8...
November 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29125828/comprehensive-analysis-of-gene-expression-patterns-in-friedreich-s-ataxia-fibroblasts-by-rna-sequencing-reveals-altered-levels-of-protein-synthesis-factors-and-solute-carriers
#16
Jill Sergesketter Napierala, Yanjie Li, Yue Lu, Kevin Lin, Lauren A Hauser, David R Lynch, Marek Napierala
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron 1 of the frataxin (FXN) gene. FRDA patients homozygous for GAA expansions have low FXN mRNA and protein levels when compared with heterozygous carriers or healthy controls. Frataxin is a mitochondrial protein involved in iron-sulfur cluster synthesis, and many FRDA phenotypes result from deficiencies in cellular metabolism due to lowered expression of FXN Presently, there is no effective treatment for FRDA, and biomarkers to measure therapeutic trial outcomes and/or to gauge disease progression are lacking...
November 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29124014/a-molecular-analysis-of-the-gaa-gene-and-clinical-spectrum-in-38-patients-with-pompe-disease-in-japan
#17
Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 sequence variants of the GAA gene have been published in the Pompe Disease Mutation Database, and some mutations appear with considerable frequency in particular ethnic groups, such as Caucasians, Taiwanese, Chinese, and Koreans. However, the GAA mutation pattern in Japanese patients remains poorly understood...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29123435/early-infantile-leigh-like-slc19a3-gene-defects-have-a-poor-prognosis-report-and-review
#18
Majid Alfadhel
Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects and compare the literature with our patient...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/29122926/defect-in-phosphoinositide-signalling-through-a-homozygous-variant-in-plcb3-causes-a-new-form-of-spondylometaphyseal-dysplasia-with-corneal-dystrophy
#19
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability...
November 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29120500/oral-healthcare-in-fraser-syndrome
#20
Y Hassona, H Kharoub, C Scully
Fraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis. Oral manifestations are sparsely described in the literature, and patients with this syndrome might require special dental management considerations because of the associated cardiac, renal, and cognitive defects. In this report, we describe the oral/dental findings in a 22-year-old girl with Fraser syndrome, and discuss the dental management.
November 9, 2017: Special Care in Dentistry
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