مراجعة
TECPR2 -Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
| العنوان: | TECPR2 -Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability |
|---|---|
| المؤلفون: | Heimer G; Pediatric Neurology Unit, Sheba Medical Center;, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany, Ben-Zeev B; Pediatric Neurology Unit, Sheba Medical Center;, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, Ebrahimi-Fakhari D; Department of Neurology, FM Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts |
| المصدر: | 1993. |
| المصدر: | In: GeneReviews ® Adam MP; Everman DB; Mirzaa GM; Pagon RA; Wallace SE; Bean LJH; Gripp KW; Amemiya A |
| نوع المنشور: | Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: University of Washington, Seattle Cited Medium: Internet |
| أسماء مطبوعة: | Seattle (WA) : University of Washington, Seattle |
| مستخلص: | Clinical Characteristics: TECPR2- related hereditary sensory and autonomic neuropathy with intellectual disability ( TECPR2 -HSAN with ID) is characterized by developmental delay and subsequent intellectual disability, behavioral abnormalities, neurologic manifestations (muscular hypotonia, sensory neuropathy with lower-limb hypo- or areflexia and ataxic gait), and autonomic dysfunction (including central hypoventilation and apnea, gastrointestinal dysmotility, dysphagia, and gastroesophageal reflux disease with recurrent aspiration). To date, more than 30 individuals with TECPR2 -HSAN with ID have been identified. Diagnosis/testing: The diagnosis of TECPR2 -HSAN with ID is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in TECPR2 identified by molecular genetic testing. Management: Treatment of manifestations: Currently there are no specific disease-modifying treatments for TECPR2 -HSAN with ID. Supportive care is recommended to improve quality of life, maximize function, reduce complications, and minimize risk for apnea and asphyxia, the two most common causes of death. Supportive care can include multidisciplinary care by pediatric specialists in neurology, development, behavior, feeding, pulmonology, gastroenterology, orthopedics, ethics, and medical genetics. Surveillance: Routinely monitor existing manifestations, response to supportive care, and emergence of new manifestations. Agents/circumstances to avoid: Avoid drugs that cause decreased consciousness, hypopnea, and CO Genetic Counseling: TECPR2 -HSAN with ID is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a TECPR2 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of inheriting neither of the familial pathogenic variants. Once the TECPR2 pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible. (Copyright © 1993-2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.) |
| References: | Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017;136:1419–29. (PMID: 28940097) Fraiberg M, Tamim-Yecheskel BC, Kokabi K, Subic N, Heimer G, Eck F, Nalbach K, Behrends C, Ben-Zeev B, Shatz O, Elazar Z. Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2. Autophagy. 2021;17:3096–108. (PMID: PMC852593833213269) Hahn K, Rohdin C, Jagannathan V, Wohlsein P, Baumgärtner W, Seehusen F, Spitzbarth I, Grandon R, Drögemüller C, Jäderlund KH. TECPR2 associated neuroaxonal dystrophy in spanish water dogs. PLoS One. 2015;10:e0141824. (PMID: PMC464070826555167) Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. Eur J Paediatr Neurol. 2016;20:69–79. (PMID: 26542466) Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549:519–22. (PMID: 28959963) Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021;42:762–76. (PMID: 33847017) Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012;91:1065–72. (PMID: PMC351660523176824) Palma JA, Yadav R, Gao D, Norcliffe-Kaufmann L, Slaugenhaupt S, Kaufmann H. Expanding the genotypic spectrum of congenital sensory and autonomic neuropathies using whole-exome sequencing. Neurol Genet. 2021;7:e568. (PMID: PMC805496433884296) Patwari PP, Wolfe LF, Sharma GD, Berry-Kravis E. TECPR2 mutation-associated respiratory dysregulation: more than central apnea. J Clin Sleep Med. 2020;16:977–82. (PMID: PMC784965832209221) Ramsey K, Belnap N, Bonfitto A, Jepsen W, Naymik M, Sanchez-Castillo M, Craig DW, Szelinger S, Huentelman MJ, Narayanan V, Rangasamy S. Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations. Mol Genet Genomic Med. 2022;10:e1857. (PMID: PMC883080834994087) Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. (PMID: PMC454475325741868) Stadel D, Millarte V, Tillmann K, Huber J, Tamin-Yecheskel BC, Akutsu M, Demishtein A, Ben-Zeev B, Anikster Y, Perez F, Dötsch V, Elazar Z, Rogov V, Farhan H, Behrends C. TECPR2 cooperates with LC3C to regulate COPII-dependent ER export. Mol Cell. 2015;60:89–104. (PMID: 26431026) Tamim-Yecheskel BC, Fraiberg M, Kokabi K, Freud S, Shatz O, Marvaldi L, Subic N, Brenner O, Tsoory M, Eilam-Altstadter R, Biton I, Savidor A, Dezorella N, Heimer G, Behrends C, Ben-Zeev B, Elazar Z. A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation. Autophagy. 2021;17:3082–95. (PMID: PMC852601533218264) Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med. 2015;17:774–81. (PMID: PMC479149025590979) |
| فهرسة مساهمة: | Keywords: Hereditary Sensory and Autonomic Neuropathy Type IX with Developmental Delay (HSAN9); Hereditary Spastic Paraplegia Type 49 (SPG49); Hereditary Sensory and Autonomic Neuropathy Type IX with Developmental Delay (HSAN9); Hereditary Spastic Paraplegia Type 49 (SPG49); Tectonin beta-propeller repeat-containing protein 2; TECPR2; TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability |
| تواريخ الأحداث: | Date Created: 20220922 |
| رمز التحديث: | 20240629 |
| PMID: | 36137062 |
| Book AN: | NBK584409 |
| قاعدة البيانات: | MEDLINE |
| الوصف غير متاح. |